{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T22:08:48Z","timestamp":1759702128279},"reference-count":219,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2016,3,1]],"date-time":"2016-03-01T00:00:00Z","timestamp":1456790400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","cidjournal.com","clinicalkey.es","theclinics.com","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinics in Dermatology"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1016\/j.clindermatol.2015.12.002","type":"journal-article","created":{"date-parts":[[2015,12,12]],"date-time":"2015-12-12T06:45:20Z","timestamp":1449902720000},"page":"166-182","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["The eye and the skin in nonendocrine metabolic disorders"],"prefix":"10.1016","volume":"34","author":[{"given":"Julio A.","family":"Urrets-Zaval\u00eda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evangelina","family":"Esp\u00f3sito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iliana","family":"Garay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodolfo","family":"Monti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Ruiz-Lascano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leandro","family":"Correa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Horacio M.","family":"Serra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrzej","family":"Grzybowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clindermatol.2015.12.002_bb0005","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1136\/ard.2006.055269","article-title":"EULAR evidence based recommendations for gout. Part II: management. Report of a task force of the EULAR Standing Committee for International Clinical Studies Including Therapeutics (ESCISIT)","volume":"65","author":"Zhang","year":"2006","journal-title":"Ann Rheum Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0010","first-page":"849","article-title":"Gout: \u201ca disease of plenty\u201d","volume":"24","author":"Rasaratnam","year":"1995","journal-title":"Aust Fam Physician"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0015","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1177\/2040622312462056","article-title":"Latest evidence on gout management: what the clinician needs to know","volume":"3","author":"Burns","year":"2012","journal-title":"Ther Adv Chronic Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0020","first-page":"801","article-title":"Gout: an update","volume":"76","author":"Eggebeen","year":"2007","journal-title":"Am Fam Physician"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0025","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/RHU.0b013e31823e5cda","article-title":"Assessment of tophus size: a comparison between physical measurement methods and dual-energy computed tomography scanning","volume":"18","author":"Dalbeth","year":"2012","journal-title":"J Clin Rheumatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0030","doi-asserted-by":"crossref","first-page":"1778","DOI":"10.1016\/0002-9394(52)92018-7","article-title":"Ocular findings in gout; report of a case of conjunctival tophi","volume":"35","author":"McWilliams","year":"1952","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0035","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1001\/archopht.1953.00920030377022","article-title":"Conjunctival tophi associated with gout","volume":"50","author":"Yourish","year":"1953","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0040","first-page":"471","article-title":"Eye tophi deposition in gout","volume":"13","author":"Martinez-Cordero","year":"1986","journal-title":"J Rheumatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0045","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1001\/archopht.1966.00970050369010","article-title":"Band keratopathy in gout","volume":"75","author":"Fishman","year":"1966","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0050","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1001\/archopht.1968.00980050340008","article-title":"Intranuclear urate crystals in corneal epithelium","volume":"80","author":"Slansky","year":"1968","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0055","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1001\/archopht.121.8.1195","article-title":"Gouty tophus at the lateral canthus","volume":"121","author":"Morris","year":"2003","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0060","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1001\/archopht.122.4.665","article-title":"Use of standard hematoxylin-eosin to stain gouty tophus specimens","volume":"122","author":"Margo","year":"2004","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0065","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1038\/sj.eye.6700334","article-title":"Uric acid crystals presenting as an orbital mass","volume":"17","author":"Topping","year":"2003","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0070","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.ophtha.2005.11.012","article-title":"Urate deposition in the iris and anterior chamber","volume":"113","author":"Coassin","year":"2006","journal-title":"Ophthalmology"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0075","first-page":"307","article-title":"Characteristics of ocular abnormalities in gout patients","volume":"6","author":"Lin","year":"2013","journal-title":"Int J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0080","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1016\/S1383-5742(00)00052-1","article-title":"The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases","volume":"463","author":"Jinnah","year":"2000","journal-title":"Mutat Res"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0085","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/1750-1172-2-48","article-title":"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome","volume":"2","author":"Torres","year":"2007","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0090","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/S0887-8994(00)00265-4","article-title":"Ocular motor dysfunction in Lesch-Nyhan disease","volume":"24","author":"Jinnah","year":"2001","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0095","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1016\/S0140-6736(09)61925-5","article-title":"Porphyrias","volume":"375","author":"Puy","year":"2010","journal-title":"Lancet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0100","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1046\/j.1365-2133.1999.02754.x","article-title":"The cutaneous porphyrias: a review. The British Photodermatology Group","volume":"140","author":"Murphy","year":"1999","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0105","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1136\/bmj.320.7250.1647","article-title":"Diagnosis and management of porphyria","volume":"320","author":"Thadani","year":"2000","journal-title":"BMJ"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0110","doi-asserted-by":"crossref","first-page":"4496","DOI":"10.1182\/blood-2012-05-423186","article-title":"The porphyrias: advances in diagnosis and treatment","volume":"120","author":"Balwani","year":"2012","journal-title":"Blood"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0115","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0738-081X(96)00067-3","article-title":"The porphyrias","volume":"14","author":"Lim","year":"1996","journal-title":"Clin Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0120","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1111\/j.1365-2230.1995.tb01288.x","article-title":"Hypertrichosis as the presenting feature of porphyria cutanea tarda","volume":"20","author":"Boffa","year":"1995","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0125","doi-asserted-by":"crossref","first-page":"310","DOI":"10.2340\/0001555574312313","article-title":"Sclerodermatous changes revealing porphyria cutanea tarda","volume":"74","author":"Castanet","year":"1994","journal-title":"Acta Derm Venereol (Stockh)"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0130","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1111\/j.1365-2133.1994.tb08577.x","article-title":"Erythropoietic protoporphyria","volume":"131","author":"Todd","year":"1994","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0135","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1080\/003655100448347","article-title":"Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythropoietic protoporphyria-diagnosis, care and monitoring of the patient","volume":"60","author":"Thunell","year":"2000","journal-title":"Scand J Clin Lab Invest"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0140","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1046\/j.1365-2141.2002.03557.x","article-title":"Congenital erythropoietic porphyria: advances in pathogenesis and treatment","volume":"117","author":"Desnick","year":"2002","journal-title":"Br J Haematol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0145","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1046\/j.1529-8019.2003.01609.x","article-title":"Diagnosis and management of the erythropoietic porphyrias","volume":"16","author":"Murphy","year":"2003","journal-title":"Dermatol Ther"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0150","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1750-1172-4-19","article-title":"Erythropoietic protoporphyria","volume":"4","author":"Lecha","year":"2009","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0155","doi-asserted-by":"crossref","first-page":"1763","DOI":"10.1182\/blood.V75.9.1763.1763","article-title":"Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Gunther\u2019s disease)","volume":"75","author":"Deybach","year":"1990","journal-title":"Blood"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0160","series-title":"Fitzpatrick\u2019s Dermatology in General Medicine","first-page":"1538","article-title":"The porphyrias","author":"Bickers","year":"2012"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0165","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0190-9622(98)70069-6","article-title":"Cutaneous deposition diseases","volume":"39","author":"Touart","year":"1998","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0170","doi-asserted-by":"crossref","first-page":"94","DOI":"10.4103\/0019-5154.77565","article-title":"Congenital erythropoietic porphyria: two case reports","volume":"56","author":"Koley","year":"2011","journal-title":"Indian J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0175","first-page":"2013","article-title":"Porphyria: varied ocular manifestations and management","volume":"22","author":"Sati","year":"2013","journal-title":"BMJ Case Rep"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0180","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1038\/sj.eye.6701362","article-title":"Sight threatening complications in porphyria cutanea tarda","volume":"18","author":"Zaborowski","year":"2004","journal-title":"Eye (Lond)"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0185","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/S0002-9394(02)01623-9","article-title":"Porphyria cutanea tarda presenting as cicatricial conjunctivitis","volume":"134","author":"Park","year":"2002","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0190","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1097\/ICO.0b013e31817e905a","article-title":"Ocular complications in 2 cases with porphyria","volume":"27","author":"Altiparmak","year":"2008","journal-title":"Cornea"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0195","doi-asserted-by":"crossref","first-page":"632","DOI":"10.1016\/j.optm.2011.02.017","article-title":"Bilateral, geographic, peripapillary, chorioretinal atrophy in a patient with porphyria cutanea tarda and high iron stores","volume":"82","author":"Denton","year":"2011","journal-title":"Optometry"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0200","first-page":"498","article-title":"Atteinte corn\u00e9o-scl\u00e9rale au cours de la porphyrie \u00e9rithropo\u00efetique","volume":"26","author":"Arn\u00e9","year":"2003","journal-title":"J Fr Ophtalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0205","first-page":"406","article-title":"Bilateral scleromalacia in a case of congenital erythropoietic porphyria","volume":"104","author":"Bandyopadhyay","year":"2006","journal-title":"J Indian Med Assoc"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0210","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1097\/ICO.0b013e3181e458fa","article-title":"Scleral necrosis in a patient with congenital erythropoietic porphyria","volume":"30","author":"Siddique","year":"2011","journal-title":"Cornea"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0215","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1136\/bjo.86.10.1188","article-title":"Need for measurement of porphyrins in teardrops in patients with congenital erythropoietic porphyria","volume":"86","author":"Takamura","year":"2002","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0220","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S0021-9258(18)70560-7","article-title":"The nature of the defect in tyrosine metabolism in alcaptonuria","volume":"230","author":"La Du","year":"1958","journal-title":"J Biol Chem"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0225","doi-asserted-by":"crossref","first-page":"2111","DOI":"10.1056\/NEJMoa021736","article-title":"Natural history of alkaptonuria","volume":"347","author":"Phomphutkul","year":"2002","journal-title":"N Engl J Med"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0230","first-page":"67","article-title":"Alkaptonuria\u2014more than meets the eye","volume":"68","author":"Ong","year":"2013","journal-title":"Med J Malaysia"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0235","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/0046-8177(89)90200-1","article-title":"The pathology of alkaptonuric ochronosis","volume":"20","author":"Gaines","year":"1989","journal-title":"Hum Pathol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0240","doi-asserted-by":"crossref","first-page":"467","DOI":"10.3109\/01913129409023221","article-title":"Ochronotic arthropathy: structural and ultrastructural features","volume":"18","author":"Melis","year":"1994","journal-title":"Ultrastruct Pathol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0245","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1016\/S0046-8177(87)80385-4","article-title":"An ultrastructural and light microscopic study of the synovium in ochronotic arthropathy","volume":"18","author":"Gaines","year":"1987","journal-title":"Hum Pathol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0250","first-page":"1055","article-title":"Ocular correlates of inborn metabolic defects","volume":"95","author":"Cogan","year":"1966","journal-title":"Can Med Assoc J"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0255","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/S0190-9622(08)81922-6","article-title":"Palmoplantar pigmentation: a clue to alkaptonuric ochronosis","volume":"30","author":"Cherian","year":"1994","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0260","first-page":"464","article-title":"Alkaptonuria and renal failure: a case report and review of the literature","volume":"5","author":"Venkataseshan","year":"1992","journal-title":"Mod Pathol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0265","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/0190-9622(92)70230-D","article-title":"Alkaptonuria and ochronosis: case report and review","volume":"27","author":"Albers","year":"1992","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0270","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1080\/17843286.1995.11718475","article-title":"The clinical manifestations of ochronosis: a review","volume":"50","author":"Van Offel","year":"1995","journal-title":"Acta Clin Belg"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0275","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1111\/j.1365-4632.2008.03585.x","article-title":"Endogenous ochronosis with a predominant acrokeratoelastoidosis-like presentation","volume":"47","author":"Ramesh","year":"2008","journal-title":"Int J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0280","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/0009-8981(90)90228-K","article-title":"Diagnosis of alkaptonuria: rapid analysis of homogentisic acid by HPLC","volume":"189","author":"Bory","year":"1990","journal-title":"Clin Chem Acta"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0285","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/S0190-9622(98)70001-5","article-title":"Cutaneous deposition diseases. Part II","volume":"39","author":"Touart","year":"1998","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0290","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1136\/jclinpath-2012-200877","article-title":"Recent advances in management of alkaptonuria","volume":"66","author":"Ranganath","year":"2013","journal-title":"J Clin Pathol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0295","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1007\/s00467-012-2242-5","article-title":"Cystinosis: the evolution of a treatable disease","volume":"28","author":"Nesterova","year":"2013","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0300","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1006\/mgme.2000.3062","article-title":"Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops","volume":"71","author":"Gahl","year":"2000","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0305","doi-asserted-by":"crossref","first-page":"1002","DOI":"10.1016\/j.ophtha.2005.12.026","article-title":"Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy","volume":"113","author":"Tsilou","year":"2006","journal-title":"Ophthalmology"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0310","doi-asserted-by":"crossref","first-page":"e111","DOI":"10.1016\/j.jaad.2011.08.010","article-title":"In vivo reflectance confocal microscopy of the skin: a noninvasive means of assessing body cystine accumulation in infantile cystinosis","volume":"68","author":"Chiaverini","year":"2013","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0315","doi-asserted-by":"crossref","first-page":"1417","DOI":"10.1016\/S0140-6736(10)60961-0","article-title":"Phenylketonuria","volume":"376","author":"Blau","year":"2010","journal-title":"Lancet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0320","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.ymgme.2007.05.006","article-title":"Phenylalanine blood levels and clinical outcomes in pheylketonuria: a systematic literature review and meta-analysis","volume":"92","author":"Waisbren","year":"2007","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0325","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1056\/NEJM198603063141001","article-title":"Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria","volume":"314","author":"Holtzman","year":"1986","journal-title":"N Engl J Med"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0330","doi-asserted-by":"crossref","first-page":"1226","DOI":"10.1016\/S0002-8223(21)07988-8","article-title":"Blood phenylalanine levels and intelligence of 10-year-old children with PKU in the National Collaborative Study","volume":"88","author":"Michals","year":"1988","journal-title":"J Am Diet Assoc"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0335","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1111\/j.1468-3083.2008.02992.x","article-title":"Acute hair loss in phenylketonuria","volume":"23","author":"Donati","year":"2009","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0340","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1001\/archopht.1983.01040020238016","article-title":"Eye findings in patients with phenylketonuria","volume":"101","author":"Zwaan","year":"1983","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0345","doi-asserted-by":"crossref","first-page":"78","DOI":"10.3928\/0191-3913-19850301-12","article-title":"Ophthalmological findings of phenylketonuria: a survey of 14 cases","volume":"22","author":"Cotticelli","year":"1985","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0350","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s10545-010-9146-y","article-title":"Vascular presentation of cystathionine beta-synthase deficiency in adulthood","volume":"34","author":"Magner","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0355","article-title":"A forgotten lethal psychosis: a case report","author":"Hidalgo Mazzei","year":"2013","journal-title":"Eur Child Adolesc Psychiatry"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0360","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1001\/archneurol.2009.333","article-title":"Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders","volume":"67","author":"Testai","year":"2010","journal-title":"Arch Neurol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0365","first-page":"720","article-title":"Is there a relationship between homocysteine and vitiligo?","volume":"159","author":"Shaker","year":"2008","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0370","first-page":"127","article-title":"Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency","volume":"57","author":"Reish","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0375","first-page":"1045","article-title":"Complications oculaires et syst\u00e9miques de l\u2019homocystinurie","volume":"26","author":"Rais","year":"2003","journal-title":"J Fr Ophtalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0380","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.jaapos.2004.01.010","article-title":"Ocular axial length in homocystinuria patients with and without ocular changes: effects of early treatment and biochemical control","volume":"8","author":"Mulvihill","year":"2004","journal-title":"J AAPOS"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0385","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s10545-010-9161-z","article-title":"Cobalamin C defect: natural history, pathophysiology, and treatment","volume":"34","author":"Martinelli","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0390","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1023\/A:1005353530303","article-title":"Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)","volume":"20","author":"Rosenblatt","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0395","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.ophtha.2013.08.034","article-title":"Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type","volume":"121","author":"Gizicki","year":"2014","journal-title":"Ophthalmology"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0400","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1007\/BF00291426","article-title":"Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16 q22.1-q22.3 in a patient with tyrosinemia type II","volume":"77","author":"Natt","year":"1987","journal-title":"Hum Genet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0405","first-page":"692","article-title":"Richer-Hanart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion","volume":"53","author":"Iskeleli","year":"2011","journal-title":"Turk J Pediatr"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0410","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1111\/j.1365-2133.1981.tb15320.x","article-title":"Richner-Hanhart syndrome (tyrosinaemia-II). Report of four cases without ocular involvement","volume":"104","author":"Rehak","year":"1981","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0415","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1001\/archderm.1990.01670340094016","article-title":"Richner-Hanhart\u2019s syndrome. Electron microscopic study of the skin lesion","volume":"126","author":"Shimizu","year":"1990","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0420","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1001\/archderm.130.4.507b","article-title":"Painful plantar callouses and mental retardation","volume":"130","author":"Acosta","year":"1994","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0425","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/S0022-3476(95)70558-9","article-title":"Painful keratoderma and photophobia: hallmarks of tyrosinemia type II","volume":"126","author":"Rabinowitz","year":"1995","journal-title":"J Pediatr"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0430","doi-asserted-by":"crossref","first-page":"e33","DOI":"10.3928\/01913913-20120501-03","article-title":"Isolated corneal pseudodendrites as the initial manifestation of tyrosinemia type II in monozygotic twins","volume":"49","author":"Kymionis","year":"2012","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0435","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1038\/ng1406","article-title":"Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6 A19","volume":"36","author":"Seow","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0440","doi-asserted-by":"crossref","first-page":"31","DOI":"10.4103\/0019-5154.39740","article-title":"Hartnup disease","volume":"53","author":"Patel","year":"2008","journal-title":"Indian J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0445","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1111\/j.1365-2230.2004.01702.x","article-title":"Exfoliative erythema of malnutrition with zinc and essential amino acid deficiency","volume":"30","author":"Topham","year":"2005","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0450","first-page":"244","article-title":"Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I","volume":"11","author":"Niiyama","year":"2001","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0455","first-page":"409","article-title":"Aminoacidurie et pathologie oculaire","volume":"80","author":"Ardouin","year":"1980","journal-title":"Bull Soc Ophtalmol Fr"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0460","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/1546-0096-10-18","article-title":"Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review","volume":"10","author":"Butbul Aviel","year":"2012","journal-title":"Pediatr Rheumatol Online J"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0465","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a004804","article-title":"Lysosomal lipid storage diseases","volume":"3","author":"Schulze","year":"2011","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0470","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1016\/j.febslet.2009.10.021","article-title":"Lysosomal degradation of membrane lipids","volume":"584","author":"Kolter","year":"2010","journal-title":"FEBS Lett"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0475","doi-asserted-by":"crossref","first-page":"4422","DOI":"10.1167\/iovs.09-5134","article-title":"Retinal sphigolipids and their very-long-chain fatty acid-containing species","volume":"51","author":"Brush","year":"2010","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0480","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1016\/j.bbamem.2006.05.027","article-title":"Sphingolipid metabolism diseases","volume":"1758","author":"Kolter","year":"2006","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0485","first-page":"104","article-title":"Newborn screening for lysosomal storage disorders","volume":"30","author":"Meikle","year":"1999","journal-title":"Southeast Asian J Trop Med Public Health"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0490","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s10545-010-9055-0","article-title":"The risk of Parkinson\u2019s disease in type 1 Gaucher disease","volume":"33","author":"Bultron","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0495","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/ajh.21888","article-title":"Consensus Conference: a reappraisal of Gaucher disease-diagnosis and disease management algorithms","volume":"86","author":"Mistry","year":"2011","journal-title":"Am J Hematol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0500","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.bcmd.2010.08.012","article-title":"Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity","volume":"46","author":"Gupta","year":"2011","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0505","doi-asserted-by":"crossref","first-page":"1191","DOI":"10.1542\/peds.2008-0635","article-title":"Lysosomal storage disorders in the newborn","volume":"123","author":"Strarets-Chacham","year":"2009","journal-title":"Pediatrics"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0510","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1203\/00006450-199601000-00020","article-title":"Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease","volume":"39","author":"Sidransky","year":"1996","journal-title":"Pediatr Res"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0515","doi-asserted-by":"crossref","first-page":"F163","DOI":"10.1136\/fn.82.2.F163","article-title":"Type 2 Gaucher disease: the collodion baby phenotype revisited","volume":"82","author":"Stone","year":"2000","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0520","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1203\/00006450-199805000-00003","article-title":"Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher\u2019s disease","volume":"43","author":"Tayebi","year":"1998","journal-title":"Pediatr Res"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0525","doi-asserted-by":"crossref","unstructured":"Cassinerio E, Graziadei G, Poggiali E. Gaucher disease: a diagnostic challenge for internists. Eur J Intern Med. in press.","DOI":"10.1016\/j.ejim.2013.09.006"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0530","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/S0002-9394(98)00249-9","article-title":"Corneal opacities in Gaucher disease","volume":"126","author":"Guemes","year":"1998","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0535","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1159\/000309588","article-title":"New ocular findings in Gaucher\u2019s disease: a report of two brothers","volume":"191","author":"Sasaki","year":"1985","journal-title":"Ophthalmologica"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0540","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1016\/0002-9394(75)90329-3","article-title":"Ocular manifestations of Gaucher\u2019s disease","volume":"80","author":"Petrohelos","year":"1975","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0545","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1001\/archopht.122.9.1395","article-title":"Vitreous opacities and retinal vascular abnormalities in Gaucher disease","volume":"122","author":"Shrier","year":"2004","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0550","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/1471-2350-6-25","article-title":"Type 1 Gaucher disease with exophthalmos and pulmonary arteriovenous malformation","volume":"6","author":"Chen","year":"2005","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0555","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-5-16","article-title":"Niemann-Pick type C","volume":"5","author":"Vanier","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0560","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/S0002-9394(14)75945-8","article-title":"Ocular manifestations of group A Niemann-Pick disease","volume":"85","author":"Walton","year":"1978","journal-title":"Am J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0565","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1038\/gim.2013.4","article-title":"Morbidity and mortality in type B Niemann-Pick disease","volume":"15","author":"McGovern","year":"2013","journal-title":"Genet Med"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0570","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1016\/j.ophtha.2003.10.034","article-title":"Ocular manifestations of Niemann-Pick disease type B","volume":"111","author":"McGovern","year":"2004","journal-title":"Ophthalmology"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0575","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1007\/s10545-010-9153-z","article-title":"Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement","volume":"33","author":"Kim","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0580","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/978-90-481-8622-8_11","article-title":"Cholesterol in Niemann-Pick type C disease","volume":"51","author":"Bi","year":"2010","journal-title":"Subcell Biochem"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0585","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.survophthal.2013.02.005","article-title":"Beyond the cherry-red spot: ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders","volume":"59","author":"Chen","year":"2014","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0590","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/j.nbd.2009.07.010","article-title":"Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1","volume":"36","author":"Smith","year":"2009","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0595","series-title":"Metabolic and Molecular Bases of Inherited Disease","first-page":"3733","article-title":"Alpha-galactosidase A deficiency: Fabry disease","author":"Desnick","year":"2001"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0600","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0605","first-page":"247","article-title":"Functional studies of new GLA gene mutations leading to conformational Fabry disease","volume":"2010","author":"Filoni","year":"1802","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0610","series-title":"Fitzpatrick Dermatology in General Medicine","first-page":"1613","article-title":"Fabry disease","author":"Mehta","year":"2012"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0615","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1097\/00004691-200212000-00011","article-title":"Small fiber dysfunction predominates in Fabry neuropathy","volume":"19","author":"Dutsch","year":"2002","journal-title":"J Clin Neurophysiol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0620","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1212\/WNL.32.5.498","article-title":"Fabry disease: impaired autonomic function","volume":"32","author":"Cable","year":"1982","journal-title":"Neurology"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0625","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1016\/j.cgh.2007.08.012","article-title":"Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy","volume":"5","author":"Hoffmann","year":"2007","journal-title":"Clin Gastroenterol Hepatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0630","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1023\/A:1015511908710","article-title":"Quality of life of patients with Fabry disease","volume":"11","author":"Gold","year":"2002","journal-title":"Qual Life Res"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0635","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/j.pcad.2009.11.002","article-title":"Anderson. Fabry disease and the heart","volume":"52","author":"O\u2019Mahony","year":"2010","journal-title":"Prog Cardiovasc Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0640","first-page":"32","article-title":"Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy","volume":"21","author":"Breunig","year":"2008","journal-title":"J Nephrol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0645","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1111\/j.1365-2230.2009.03721.x","article-title":"Angiokeratoma: a cutaneous marker of Fabry\u2019s disease","volume":"35","author":"Albano","year":"2010","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0650","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/j.1365-2133.2007.08002.x","article-title":"Fabry disease and the skin: data from FOS, the Fabry outcome survey","volume":"157","author":"Orteu","year":"2007","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0655","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1111\/j.1365-2133.2012.10742.x","article-title":"Angiokeratoma: decision-making aid for the diagnosis of Fabry disease","volume":"166","author":"Zampetti","year":"2012","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0660","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","article-title":"Fabry\u2019s disease","volume":"372","author":"Zarate","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0665","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1111\/j.1365-2230.2011.04053.x","article-title":"Late-onset Fabry disease associated with angiokeratoma of Fordyce and multiple cherry angiomas","volume":"36","author":"Hogarth","year":"2011","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0670","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1007\/s00431-003-1299-3","article-title":"The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents","volume":"162","author":"Ries","year":"2003","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0675","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1111\/j.1742-1241.2006.01061.x","article-title":"Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey","volume":"60","author":"Lidove","year":"2006","journal-title":"Int J Clin Pract"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0680","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0685","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1097\/01.gim.0000200950.25118.dd","article-title":"Quantitative dysmorphology assessment in Fabry disease","volume":"8","author":"Ries","year":"2006","journal-title":"Genet Med"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0690","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1067\/moe.2001.114833","article-title":"Oral and craniofacial findings in Fabry\u2019s disease: a report of 13 patients","volume":"92","author":"Baccaglini","year":"2001","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0695","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.survophthal.2008.04.005","article-title":"Ocular features of Fabry disease: diagnosis of a treatable life-threatening disorder","volume":"53","author":"Samiy","year":"2008","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0700","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1001\/archopht.1979.01020010327008","article-title":"The ocular manifestations in Fabry\u2019s disease","volume":"97","author":"Sher","year":"1979","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0705","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1001\/archopht.1965.00970040762005","article-title":"Fabry\u2019s disease. Its ocular manifestations","volume":"74","author":"Spaeth","year":"1965","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0710","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1546-0096-5-15","article-title":"Farber disease: clinical presentation, pathogenesis and a new approach to treatment","volume":"5","author":"Ehlert","year":"2007","journal-title":"Pediatr Rheumatol Online J"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0715","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1136\/bjo.57.12.885","article-title":"Ultrastructure of the optic nerve in Krabbe\u2019s leucodystrophy","volume":"57","author":"Harcourt","year":"1973","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0720","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1007\/BF01800078","article-title":"Cherry red spot in association with galactosylceramide-beta-galactosidase deficiency","volume":"10","author":"Hoffman","year":"1987","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0725","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/BF00219337","article-title":"Quantitative correlation between the residual activity of \u00df-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease","volume":"88","author":"Leinekugel","year":"1992","journal-title":"Hum Genet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0730","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1136\/bjo.84.11.1318c","article-title":"Observations on time course changes of the cherry red spot in a patient with Tay-Sachs disease","volume":"84","author":"Nakaya-Onishi","year":"2000","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0735","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/ana.410170409","article-title":"The cherry-red spot in Tay-Sachs and other storage diseases","volume":"17","author":"Kivlin","year":"1985","journal-title":"Ann Neurol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0740","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1007\/s10545-011-9359-8","article-title":"Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management","volume":"34","author":"Braunlin","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0745","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1136\/adc.72.3.263","article-title":"The mucopolysaccharidoses: a clinical review and guide to management","volume":"72","author":"Wraith","year":"1995","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0750","first-page":"3421","article-title":"The mucopolysaccharidoses","volume":"vol. 8","author":"Neufeld","year":"2001"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0755","doi-asserted-by":"crossref","first-page":"471325","DOI":"10.1155\/2012\/471325","article-title":"Glycosaminoglycan storage disorders: a review","volume":"2012","author":"Coutinho","year":"2012","journal-title":"Biochem Res Int"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0760","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1007\/s002470000210","article-title":"Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1 H)","volume":"30","author":"Hite","year":"2000","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0765","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1542\/peds.2007-1350","article-title":"Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome)","volume":"121","author":"Martin","year":"2008","journal-title":"Pediatrics"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0770","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1046\/j.1365-2133.2003.05317.x","article-title":"Significance of extensive Mongolian spots in Hunter\u2019s syndrome","volume":"148","author":"Ochiai","year":"2003","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0775","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1590\/S1415-47572010005000093","article-title":"Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment","volume":"33","author":"Giugliani","year":"2010","journal-title":"Genet Mol Biol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0780","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-5-5","article-title":"Mucopolysaccharidosis VI","volume":"5","author":"Valayannopoulos","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0785","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1161\/01.CIR.85.1.188","article-title":"Valvular heart disease in four patients with Maroteaux-Lamy syndrome","volume":"85","author":"Tan","year":"1992","journal-title":"Circulation"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0790","doi-asserted-by":"crossref","first-page":"104","DOI":"10.3928\/00904481-19780201-06","article-title":"The mucopolysaccharidoses: advances in understanding and treatment","volume":"7","author":"Lorincz","year":"1978","journal-title":"Pediatr Ann"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0795","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/sj.eye.6701921","article-title":"The ocular features of mucopolysaccharidoses","volume":"20","author":"Ashworth","year":"2006","journal-title":"Eye"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0800","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1136\/bjo.2010.179937","article-title":"Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis","volume":"95","author":"Ferrari","year":"2011","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0805","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1097\/ICO.0b013e3181b55cc1","article-title":"Central corneal thickness in mucopolysaccharidosis II and VI","volume":"29","author":"Kottler","year":"2010","journal-title":"Cornea"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0810","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s00247-008-0788-y","article-title":"Sonographic ocular findings in patients suffering from mucopolysaccharidoses I, II, and VI","volume":"38","author":"Schumacher","year":"2008","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0815","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.survophthal.2005.11.007","article-title":"Mucopolysaccharidoses and the eye","volume":"51","author":"Ashworth","year":"2006","journal-title":"Surg Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0820","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1097\/ICU.0b013e3283644ea1","article-title":"An update on ocular involvement in mucopolisaccharidoses","volume":"24","author":"Ganesh","year":"2013","journal-title":"Curr Opin Ophthal"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0825","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/j.ymgme.2011.09.028","article-title":"Innovative therapy for classic galactosemia\u2014tale of two HTS","volume":"105","author":"Tang","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0830","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1006\/mgme.2001.3151","article-title":"Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene","volume":"72","author":"Berry","year":"2001","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0835","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/s10545-011-9372-y","article-title":"The adult galactosemic phenotype","volume":"35","author":"Waisbren","year":"2012","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0840","doi-asserted-by":"crossref","first-page":"165","DOI":"10.3928\/0191-3913-19890701-05","article-title":"Ophthalmic findings in classical galactosemia-a screened population","volume":"26","author":"Burke","year":"1989","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0845","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1007\/BF01800204","article-title":"Long-term prognosis in galactosaemia: results of a survey of 350 cases","volume":"13","author":"Waggoner","year":"1990","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0850","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s10545-009-9042-5","article-title":"Diet and visually significant cataracts in galactosaemia: is regular follow up necessary?","volume":"33","author":"Widger","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0855","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/S0022-3476(96)70041-0","article-title":"Vitreous hemorrhage as an ophthalmic complication of galactosemia","volume":"129","author":"Levy","year":"1996","journal-title":"J Pediatr"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0860","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1016\/S0181-5512(05)81085-X","article-title":"H\u00e9morragie intra-vitr\u00e9enne du nouveau-n\u00e9 et galactos\u00e9mie","volume":"28","author":"Laumonier","year":"2005","journal-title":"J Fr Ophtalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0865","first-page":"89","article-title":"A rare galactosemia complication: vitreous hemorrhage","volume":"5","author":"Tacki","year":"2012","journal-title":"JIMD Rep"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0870","first-page":"45","article-title":"Primary systemic amyloidosis: clinical and laboratory features in 474 cases","volume":"32","author":"Kyle","year":"1995","journal-title":"Semin Hematol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0875","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1111\/j.1365-2133.1993.tb00266.x","article-title":"Lichenoid skin lesions as a sign of B2-microglobulin-induced amyloidosis in a long-term hemodialysis patient","volume":"128","author":"Sato","year":"1993","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0880","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1097\/00000372-199404000-00014","article-title":"Atypical b 2-microglobulin amyloidosis following short-term hemodialysis","volume":"16","author":"Albers","year":"1994","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0885","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1684\/ejd.2010.0842","article-title":"Cutaneous amyloidoses and systemic amyloidoses with cutaneous involvement","volume":"20","author":"Schreml","year":"2010","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0890","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/DAD.0b013e31823465c7","article-title":"Cutaneous amyloidosis: a concept review","volume":"34","author":"Fernandez-Flores","year":"2012","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0895","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1159\/000246814","article-title":"Characterization of the amyloid fibril from primary localized cutaneous nodular amyloidosis associated with Sj\u00f6gren\u2019s syndrome","volume":"189","author":"Inazumi","year":"1994","journal-title":"Dermatology"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0900","doi-asserted-by":"crossref","first-page":"781","DOI":"10.7326\/0003-4819-88-6-781","article-title":"Skin involvement in generalized amyloidosis: a study of clinically involved and uninvolved skin in 50 patients with primary and secondary amyloidosis","volume":"88","author":"Rubinow","year":"1978","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0905","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1016\/S0889-8588(18)30276-4","article-title":"Hemostatic abnormalities in multiple myeloma and related disorders","volume":"6","author":"Glaspy","year":"1992","journal-title":"Hematol Oncol Clin North Am"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0910","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0001-7310(05)73042-8","article-title":"Systemic amyloidoses","volume":"96","author":"Alvarez-Ruiz","year":"2005","journal-title":"Actas Dermosifiliogr"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0915","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1053\/j.ajkd.2006.03.036","article-title":"Amyloidosis and bleeding: pathophysiology diagnosis, and therapy","volume":"47","author":"Sucker","year":"2006","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0920","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/ajh.21603","article-title":"Systemic AL amyloidosis with acquired factor X deficiency: a study of perioperative bleeding risk and treatment outcomes in 60 patients","volume":"85","author":"Thompson","year":"2010","journal-title":"Am J Hematol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0925","first-page":"263","article-title":"Primary systemic amyloidosis presenting as scleroderma","volume":"83","author":"Leach","year":"1960","journal-title":"Can Med Assoc J"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0930","first-page":"2275","article-title":"Scleroderma-like changes of the hands in primary amyloidosis","volume":"27","author":"Gerster","year":"2000","journal-title":"J Rheumatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0935","doi-asserted-by":"crossref","first-page":"1386","DOI":"10.1136\/bmj.309.6966.1386","article-title":"Macroglossia","volume":"309","author":"Murthy","year":"1994","journal-title":"BMJ"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0940","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1001\/archderm.1981.01650120061028","article-title":"Alopecia universalis: a manifestation of occult amyloidosis and multiple myeloma","volume":"117","author":"Wheeler","year":"1981","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0945","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1111\/j.1365-2230.1986.tb00430.x","article-title":"Cutis laxa associated with amyloidosis","volume":"11","author":"Newton","year":"1986","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0950","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1001\/archderm.1991.01680060143030","article-title":"Primary systemic amyloidosis causing diffuse alopecia by telogen arrest","volume":"127","author":"Hunt","year":"1991","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0955","first-page":"124","article-title":"Bullous amyloidosis","volume":"24","author":"Robert","year":"1994","journal-title":"Medicine"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0960","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1111\/j.1468-3083.2007.02269.x","article-title":"Nail dystrophy in primary systemic amyloidosis","volume":"22","author":"Prat","year":"2008","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0965","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1097\/00000372-199302000-00011","article-title":"A case of nodular cutaneous amyloidosis","volume":"15","author":"Horiguchi","year":"1993","journal-title":"Am J Dermatopathol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0970","doi-asserted-by":"crossref","first-page":"S26","DOI":"10.1016\/j.jaad.2006.12.014","article-title":"Nodular primary localized cutaneous amyloidosis after trauma: a case report and discussion of the rate of progression to systemic amyloidosis","volume":"57","author":"Kalajian","year":"2007","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0975","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0190-9622(81)70002-1","article-title":"Cutaneous amyloidosis","volume":"4","author":"Ratz","year":"1981","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0980","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1111\/j.1365-2230.1987.tb01951.x","article-title":"Nodular localized primary cutaneous amyloidosis","volume":"12","author":"Clement","year":"1987","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0985","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archderm.1985.01660040102020","article-title":"Nodular cutaneous amyloidosis involving the vulva","volume":"121","author":"Northcutt","year":"1985","journal-title":"Arch Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0990","doi-asserted-by":"crossref","first-page":"561","DOI":"10.2340\/00015555-0155","article-title":"Lichen amyloidosus without itching indicates that it is not secondary to chronic scratching","volume":"86","author":"Ramirez-Santos","year":"2006","journal-title":"Acta Derm Venereol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb0995","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1159\/000250500","article-title":"Primary cutaneous amyloidosis: clinical, laboratorial and histopathological study of 25 cases. Identification of gammaglobulins and C3 in the lesions by immunofluorescence","volume":"160","author":"Habermann","year":"1980","journal-title":"Dermatologica"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1000","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0190-9622(88)70002-X","article-title":"Primary cutaneous amyloidosis of the auricular concha","volume":"18","author":"Hicks","year":"1988","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1005","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1159\/000247906","article-title":"Papules in the auricular concha: lichen amyloidosus in a case of biphasic amyloidosis","volume":"181","author":"Barnadas","year":"1990","journal-title":"Dermatologica"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1010","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.1046\/j.1365-2133.2000.03899.x","article-title":"Anosacral cutaneous amyloidosis: a study of 10 Chinese cases","volume":"143","author":"Wang","year":"2000","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1015","first-page":"262","article-title":"Lichen amyloidosis with subepidermal blister formation","volume":"14","author":"Kuroda","year":"2004","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1020","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1111\/j.1365-2133.1992.tb14880.x","article-title":"Diffuse primary cutaneous amyloidosis","volume":"127","author":"Bourke","year":"1992","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1025","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1111\/j.1365-2230.1994.tb01212.x","article-title":"Notalgia paraesthetica: report of an association with macular amyloidosis","volume":"19","author":"Goulden","year":"1994","journal-title":"Clin Exp Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1030","doi-asserted-by":"crossref","first-page":"328","DOI":"10.4103\/0019-5154.113995","article-title":"A generalized, non-pruritic variant of lichen amyloidosis: a case report and a brief review","volume":"58","author":"Kandhari","year":"2013","journal-title":"Indian J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1035","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S0190-9622(98)70069-6","article-title":"Cutaneous deposition diseases. Part I","volume":"39","author":"Touart","year":"1988","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1040","doi-asserted-by":"crossref","first-page":"e2","DOI":"10.1016\/j.jcjo.2011.08.009","article-title":"Atypical presentation of primary conjuctival amiloidosis","volume":"47","author":"Ray","year":"2012","journal-title":"Can J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1045","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/j.survophthal.2006.04.007","article-title":"Conjunctival amyloidosis: report of six cases and review of the literature","volume":"51","author":"Demirci","year":"2006","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1050","doi-asserted-by":"crossref","first-page":"287","DOI":"10.3109\/01676830.2012.707740","article-title":"Amyloidosis of the orbita and adnexae","volume":"31","author":"Al-Nuaimi","year":"2012","journal-title":"Orbit"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1055","first-page":"439","article-title":"Advanced localized primary conjunctival amyloidosis: surgical rehabilitation using mucous membrane graft implantation","volume":"8","author":"Seider","year":"2006","journal-title":"Isr Med Assoc J"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1060","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/j.1442-9071.2008.01681.x","article-title":"In vivo confocal microscopy in a patient with conjunctival amyloidosis","volume":"36","author":"Bozkurt","year":"2008","journal-title":"Clin Exp Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1065","doi-asserted-by":"crossref","first-page":"38","DOI":"10.3341\/kjo.2001.15.1.38","article-title":"A rare cause of unilateral upper and lower eyelid swelling: isolated conjunctival amyloidosis","volume":"15","author":"Rodrigues","year":"2001","journal-title":"Korean J Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1070","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1093\/hmg\/11.7.833","article-title":"Lipoid proteinosis maps to 1 q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)","volume":"11","author":"Hamada","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1075","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1046\/j.1442-9071.2004.00772.x","article-title":"Lipoid proteinosis: a rare disorder with pathognomonic lid lesions","volume":"32","author":"Sharma","year":"2004","journal-title":"Clin Exp Ophthalmol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1080","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.sdentj.2012.12.004","article-title":"Oral manifestations of lipoid proteinosis: a case report and literature review","volume":"25","author":"Ravi Prakash","year":"2013","journal-title":"Saudi Dent J"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1085","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1046\/j.1525-1470.2001.018001021.x","article-title":"Lipoid proteinosis: report of four siblings and brief review of literature","volume":"18","author":"Nanda","year":"2001","journal-title":"Pediatr Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1090","first-page":"344","article-title":"Clinical and molecular abnormalities in lipoid proteinosis","volume":"15","author":"Desmet","year":"2005","journal-title":"Eur J Dermatol"},{"key":"10.1016\/j.clindermatol.2015.12.002_bb1095","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1136\/bjophthalmol-2012-301617","article-title":"Prominent corneal nerves: a novel sign of lipoid proteinosis","volume":"96","author":"Al-Faky","year":"2012","journal-title":"Br J Ophthalmol"}],"container-title":["Clinics in Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0738081X15002527?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0738081X15002527?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:36:49Z","timestamp":1718239009000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0738081X15002527"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3]]},"references-count":219,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["S0738081X15002527"],"URL":"https:\/\/doi.org\/10.1016\/j.clindermatol.2015.12.002","relation":{},"ISSN":["0738-081X"],"issn-type":[{"value":"0738-081X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The eye and the skin in nonendocrine metabolic disorders","name":"articletitle","label":"Article Title"},{"value":"Clinics in Dermatology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clindermatol.2015.12.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}