{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T15:14:03Z","timestamp":1767626043422,"version":"3.40.3"},"publisher-location":"Vienna","reference-count":129,"publisher":"Springer Vienna","isbn-type":[{"type":"print","value":"9783709113677"},{"type":"electronic","value":"9783709113684"}],"license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013]]},"DOI":"10.1007\/978-3-7091-1368-4_1","type":"book-chapter","created":{"date-parts":[[2013,4,11]],"date-time":"2013-04-11T05:47:16Z","timestamp":1365659236000},"page":"3-32","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The Genetics of Sphingolipid Hydrolases and Sphingolipid Storage Diseases"],"prefix":"10.1007","author":[{"given":"Edward H.","family":"Schuchman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Calogera M.","family":"Simonaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,3,9]]},"reference":[{"issue":"6","key":"1_CR00011","doi-asserted-by":"publisher","first-page":"2390","DOI":"10.1021\/mp200313e","volume":"8","author":"O Abian","year":"2011","unstructured":"Abian O, Alfonso P, Velazquez-Campoy A, Giraldo P, Pocovi M, Sancho J (2011) Therapeutic strategies for Gaucher disease: miglustat (NB-DNJ) as a pharmacological chaperone for glucocerebrosidase and the different thermostability of velaglucerase alfa and imiglucerase. Mol Pharm 8(6):2390\u20132397","journal-title":"Mol Pharm"},{"key":"1_CR00012","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1007\/978-1-4614-0650-1_7","volume":"721","author":"JM Aerts","year":"2011","unstructured":"Aerts JM, Boot RG, van Eijk M, Groener J, Bijl N, Lombardo E, Bietrix FM, Dekker N, Groen AK, Ottenhoff R, van Roomen C, Aten J, Serlie M, Langeveld M, Wennekes T, Overkleeft HS (2011) Glycosphingolipids and insulin resistance. Adv Exp Med Biol 721:99\u2013119","journal-title":"Adv Exp Med Biol"},{"issue":"1","key":"1_CR00013","first-page":"67","volume":"19","author":"A Ahmad","year":"2009","unstructured":"Ahmad A, Mazhar AU, Anwar M (2009) Farber disease: a rare neurodegenerative disorder. J Coll Physicians Surg Pak 19(1):67\u201368","journal-title":"J Coll Physicians Surg Pak"},{"issue":"6","key":"1_CR00014","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1212\/WNL.0b013e318245f476","volume":"78","author":"M Anheim","year":"2012","unstructured":"Anheim M, Elbaz A, Lesage S, Durr A, Condroyer C, Viallet F, Pollak P, Bona\u00efti B, Bona\u00efti-Pelli\u00e9 C, Brice A (2012) Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology 78(6):417\u2013420","journal-title":"Neurology"},{"issue":"3","key":"1_CR00016","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1007\/s11745-008-3268-0","volume":"44","author":"RC Baek","year":"2009","unstructured":"Baek RC, Martin DR, Cox NR, Seyfried TN (2009) Comparative analysis of brain lipids in mice, cats, and humans with Sandhoff disease. Lipids 44(3):197\u2013205","journal-title":"Lipids"},{"issue":"Suppl 1","key":"1_CR00017","first-page":"11","volume":"35","author":"KB Baronica","year":"2011","unstructured":"Baronica KB, Mlinac K, Ozreti\u0107 D, Vladi\u0107 A, Bognar SK (2011) Arylsulfatase a gene polymorphisms in relapsing remitting multiple sclerosis: genotype-phenotype correlation and estimation of disease progression. Coll Antropol 35(Suppl 1):11\u201316","journal-title":"Coll Antropol"},{"issue":"1","key":"1_CR00018","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1159\/000315106","volume":"26","author":"KA Becker","year":"2010","unstructured":"Becker KA, Grassm\u00e9 H, Zhang Y, Gulbins E (2010) Ceramide in Pseudomonas aeruginosa infections and cystic fibrosis. Cell Physiol Biochem 26(1):57\u201366","journal-title":"Cell Physiol Biochem"},{"key":"1_CR00019","doi-asserted-by":"publisher","first-page":"2034","DOI":"10.1002\/ijc.27480","volume":"131","author":"TH Beckham","year":"2012","unstructured":"Beckham TH, Lu P, Cheng JC, Zhao D, Turner LS, Zhang X, Hoffman S, Armeson KE, Liu A, Marrison T, Hannun YA, Liu X (2012) Acid ceramidase-mediated production of sphingosine 1-phosphate promotes prostate cancer invasion through upregulation of cathepsin B. Int J Cancer 131:2034\u20132043. doi:10.1002\/ijc.27480","journal-title":"Int J Cancer"},{"issue":"6","key":"1_CR000110","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1517\/13543776.2011.569162","volume":"21","author":"JM Benito","year":"2011","unstructured":"Benito JM, Garc\u00eda Fern\u00e1ndez JM, Ortiz Mellet C (2011) Pharmacological chaperone therapy for Gaucher disease: a patent review. Expert Opin Ther Pat 21(6):885\u2013903","journal-title":"Expert Opin Ther Pat"},{"key":"1_CR000112","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/978-1-4614-0650-1_6","volume":"721","author":"BT Bikman","year":"2011","unstructured":"Bikman BT, Summers SA (2011) Sphingolipids and hepatic steatosis. Adv Exp Med Biol 721: 87\u201397","journal-title":"Adv Exp Med Biol"},{"issue":"5","key":"1_CR000113","doi-asserted-by":"publisher","first-page":"e1233","DOI":"10.1542\/peds.2011-0078","volume":"128","author":"AE Bley","year":"2011","unstructured":"Bley AE, Giannikopoulos OA, Hayden D, Kubilus K, Tifft CJ, Eichler FS (2011) Natural history of infantile G(M2) gangliosidosis. Pediatrics 128(5):e1233\u2013e1241","journal-title":"Pediatrics"},{"key":"1_CR000114","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1007\/s10545-011-9447-9","volume":"35","author":"MG Bouwman","year":"2012","unstructured":"Bouwman MG, Rombach SM, Schenk E, Sweeb A, Wijburg FA, Hollak CE, Linthorst GE (2012) Prevalence of symptoms in female Fabry disease patients: a case-control survey. J Inherit Metab Dis 35:891\u2013898","journal-title":"J Inherit Metab Dis"},{"issue":"1","key":"1_CR000115","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.ymgme.2009.01.003","volume":"97","author":"AM Bradbury","year":"2009","unstructured":"Bradbury AM, Morrison NE, Hwang M, Cox NR, Baker HJ, Martin DR (2009) Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol Genet Metab 97(1):53\u201359","journal-title":"Mol Genet Metab"},{"key":"1_CR000116","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1186\/1471-2350-7-69","volume":"7","author":"JT Brown","year":"2006","unstructured":"Brown JT, Lahey C, Laosinchai-Wolf W, Hadd AG (2006) Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T\u2009>\u2009C (L444P). BMC Med Genet 7:69","journal-title":"BMC Med Genet"},{"issue":"4","key":"1_CR000117","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1016\/j.ymgme.2008.04.012","volume":"94","author":"N Brunetti-Pierri","year":"2008","unstructured":"Brunetti-Pierri N, Scaglia F (2008) GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 94(4):391\u2013396","journal-title":"Mol Genet Metab"},{"issue":"7","key":"1_CR000118","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1016\/j.bbadis.2011.03.018","volume":"1812","author":"A Caciotti","year":"2011","unstructured":"Caciotti A, Garman SC, Rivera-Col\u00f3n Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d\u2019Amico A, d\u2019Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A (2011) GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta 1812(7):782\u2013790","journal-title":"Biochim Biophys Acta"},{"key":"1_CR000119","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/1750-1172-7-12","volume":"7","author":"TN Campbell","year":"2012","unstructured":"Campbell TN, Choy FY (2012) Gaucher disease and the synucleinopathies: refining the relationship. Orphanet J Rare Dis 7:12","journal-title":"Orphanet J Rare Dis"},{"key":"1_CR000120","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1007\/978-1-4614-0631-0_70","volume":"723","author":"H Chen","year":"2012","unstructured":"Chen H, Tran JT, Brush RS, Saadi A, Rahman AK, Yu M, Yasumura D, Matthes MT, Ahern K, Yang H, LaVail MM, Mandal MN (2012) Ceramide signaling in retinal degeneration. Adv Exp Med Biol 723:553\u2013558","journal-title":"Adv Exp Med Biol"},{"key":"1_CR000121","first-page":"150450","volume":"2011","author":"FY Choy","year":"2011","unstructured":"Choy FY, Campbell TN (2011) Gaucher disease and cancer: concept and controversy. Int J Cell Biol 2011:150450","journal-title":"Int J Cell Biol"},{"issue":"1","key":"1_CR000122","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1016\/j.advenzreg.2010.09.016","volume":"51","author":"CJ Clarke","year":"2011","unstructured":"Clarke CJ, Wu BX, Hannun YA (2011) The neutral sphingomyelinase family: identifying biochemical connections. Adv Enzyme Regul 51(1):51\u201358","journal-title":"Adv Enzyme Regul"},{"issue":"3\u20134","key":"1_CR000123","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1016\/0169-328X(91)90035-V","volume":"11","author":"E Claro","year":"1991","unstructured":"Claro E, Wallace MA, Fain JN, Nair BG, Patel TB, Shanker G, Baker HJ (1991) Altered phosphoinositide-specific phospholipase C and adenylyl cyclase in brain cortical membranes of cats with GM1 and GM2 gangliosidosis. Brain Res Mol Brain Res 11(3\u20134):265\u2013271","journal-title":"Brain Res Mol Brain Res"},{"issue":"6","key":"1_CR000125","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1097\/00125817-200011000-00003","volume":"2","author":"P Cordeiro","year":"2000","unstructured":"Cordeiro P, Hechtman P, Kaplan F (2000) The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci. Genet Med 2(6):319\u2013327","journal-title":"Genet Med"},{"issue":"2","key":"1_CR000126","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1002\/path.3021","volume":"226","author":"TM Cox","year":"2012","unstructured":"Cox TM, Cach\u00f3n-Gonz\u00e1lez MB (2012) The cellular pathology of lysosomal diseases. J Pathol 226(2):241\u2013254","journal-title":"J Pathol"},{"issue":"1","key":"1_CR000127","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1007\/BF00207048","volume":"89","author":"M De Braekeleer","year":"1992","unstructured":"De Braekeleer M, Hechtman P, Andermann E, Kaplan F (1992) The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders. Hum Genet 89(1):83\u201387","journal-title":"Hum Genet"},{"issue":"3","key":"1_CR000129","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/j.pediatrneurol.2011.05.007","volume":"45","author":"PK Duffner","year":"2011","unstructured":"Duffner PK, Barczykowski A, Jalal K, Yan L, Kay DM, Carter RL (2011) Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. Pediatr Neurol 45(3):141\u2013148","journal-title":"Pediatr Neurol"},{"key":"1_CR000130","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1016\/j.jpeds.2012.01.044","volume":"161","author":"PK Duffner","year":"2012","unstructured":"Duffner PK, Granger C, Lyon N, Niewczyk P, Barczykowski A, Bauer S (2012) Msall ME (2012) developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique. J Pediatr 161:258\u2013263","journal-title":"J Pediatr"},{"issue":"4","key":"1_CR000131","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1096\/fj.09-145508","volume":"24","author":"E Eliyahu","year":"2010","unstructured":"Eliyahu E, Shtraizent N, Martinuzzi K, Barritt J, He X, Wei H, Chaubal S, Copperman AB, Schuchman EH (2010) Acid ceramidase improves the quality of oocytes and embryos and the outcome of in vitro fertilization. FASEB J 24(4):1229\u20131238","journal-title":"FASEB J"},{"issue":"6","key":"1_CR000132","first-page":"816","volume":"24","author":"S Farber","year":"1957","unstructured":"Farber S, Cohen J, Uzman LL (1957) Lipogranulomatosis; a new lipo-glycoprotein storage disease. J Mt Sinai Hosp NY 24(6):816\u2013837","journal-title":"J Mt Sinai Hosp NY"},{"issue":"6","key":"1_CR000133","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1242\/dmm.008185","volume":"4","author":"T Farfel-Becker","year":"2011","unstructured":"Farfel-Becker T, Vitner EB, Futerman AH (2011) Animal models for Gaucher disease research. Dis Model Mech 4(6):746\u2013752","journal-title":"Dis Model Mech"},{"key":"1_CR000134","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1007\/s10549-011-1768-8","volume":"133","author":"M Flowers","year":"2012","unstructured":"Flowers M, Fabri\u00e1s G, Delgado A, Casas J, Abad JL, Cabot MC (2012) C6-Ceramide and targeted inhibition of acid ceramidase induce synergistic decreases in breast cancer cell growth. Breast Cancer Res Treat 133:447\u2013458","journal-title":"Breast Cancer Res Treat"},{"issue":"4","key":"1_CR000135","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1007\/s00439-003-1072-8","volume":"114","author":"A Frisch","year":"2004","unstructured":"Frisch A, Colombo R, Michaelovsky E, Karpati M, Goldman B, Peleg L (2004) Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis. Hum Genet 114(4):366\u2013376","journal-title":"Hum Genet"},{"issue":"3\u20134","key":"1_CR000136","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1007\/s10555-011-9304-1","volume":"30","author":"H Furuya","year":"2011","unstructured":"Furuya H, Shimizu Y, Kawamori T (2011) Sphingolipids in cancer. Cancer Metastasis Rev 30(3\u20134):567\u2013576","journal-title":"Cancer Metastasis Rev"},{"issue":"3","key":"1_CR000137","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1097\/MPH.0b013e3182050945","volume":"33","author":"A Gassas","year":"2011","unstructured":"Gassas A, Raiman J, White L, Schechter T, Clarke J, Doyle J (2011) Long-term adaptive functioning outcomes of children with inherited metabolic and genetic diseases treated with hematopoietic stem cell transplantation in a single large pediatric center: parents\u2019 perspective. J Pediatr Hematol Oncol 33(3):216\u2013220","journal-title":"J Pediatr Hematol Oncol"},{"key":"1_CR0001132","doi-asserted-by":"crossref","unstructured":"Geiselmann V, Matzner, U, Hess B, Lullmann-Rauch R, Coenen R, Hartmann D, D\u2019Hooge R, DeDeyn P, Nagels G (1998) Metachromatic leukodystrophy: molecular genetics and an animal model. J. Inherit Metab Dis:564\u2013574","DOI":"10.1023\/A:1005471106088"},{"issue":"4","key":"1_CR000138","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1002\/humu.1380040402","volume":"4","author":"V Gieselmann","year":"1994","unstructured":"Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994) Molecular genetics of metachromatic leukodystrophy. Hum Mutat 4(4):233\u2013242","journal-title":"Hum Mutat"},{"issue":"4","key":"1_CR000139","doi-asserted-by":"publisher","first-page":"438","DOI":"10.1016\/j.ymgme.2011.08.004","volume":"104","author":"O Goker-Alpan","year":"2011","unstructured":"Goker-Alpan O (2011) Therapeutic approaches to bone pathology in Gaucher disease: past, present and future. Mol Genet Metab 104(4):438\u2013447","journal-title":"Mol Genet Metab"},{"issue":"11","key":"1_CR000141","doi-asserted-by":"publisher","first-page":"E220","DOI":"10.1002\/humu.20851","volume":"29","author":"S Grossi","year":"2008","unstructured":"Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V, Biancheri R, Filocamo M (2008) Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Hum Mutat 29(11):E220\u2013E230","journal-title":"Hum Mutat"},{"issue":"21","key":"1_CR000142","doi-asserted-by":"publisher","first-page":"9975","DOI":"10.1073\/pnas.91.21.9975","volume":"91","author":"M Gulinello","year":"1994","unstructured":"Gulinello M, Chen F, Dobrenis K (1994) Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci U S A 91(21):9975\u20139979","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"8","key":"1_CR000143","doi-asserted-by":"publisher","first-page":"1214","DOI":"10.1002\/humu.21031","volume":"30","author":"D Hofer","year":"2009","unstructured":"Hofer D, Paul K, Fantur K, Beck M, B\u00fcrger F, Caillaud C, Fumic K, Ledvinova J, Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E (2009) GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat 30(8):1214\u20131221","journal-title":"Hum Mutat"},{"issue":"3","key":"1_CR000144","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1038\/ng0795-288","volume":"10","author":"K Horinouchi","year":"1995","unstructured":"Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH (1995) Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet 10(3):288\u2013293","journal-title":"Nat Genet"},{"issue":"5","key":"1_CR000140","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1002\/humu.20676","volume":"29","author":"KS Hruska","year":"2008","unstructured":"Hruska KS, LaMarca ME, Scott CR, Sidransky E (2008) Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat 29(5):567\u2013583","journal-title":"Hum Mutat"},{"issue":"23\u201324","key":"1_CR000145","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1007\/s10354-010-0864-4","volume":"160","author":"DA Hughes","year":"2010","unstructured":"Hughes DA, Pastores GM (2010) The pathophysiology of GD - current understanding and rationale for existing and emerging therapeutic approaches. Wien Med Wochenschr 160(23\u201324):594\u2013599","journal-title":"Wien Med Wochenschr"},{"issue":"6","key":"1_CR000146","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1016\/S0387-7604(01)00244-3","volume":"23","author":"M Itoh","year":"2001","unstructured":"Itoh M, Matsuda J, Suzuki O, Ogura A, Oshima A, Tai T, Suzuki Y, Takashima S (2001) Development of lysosomal storage in mice with targeted disruption of the beta-galactosidase gene: a model of human G(M1)-gangliosidosis. Brain Dev 23(6):379\u2013384","journal-title":"Brain Dev"},{"issue":"6","key":"1_CR000147","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1016\/j.pediatrneurol.2010.02.007","volume":"42","author":"A Jain","year":"2010","unstructured":"Jain A, Kohli A, Sachan D (2010) Infantile Sandhoff\u2019s disease with peripheral neuropathy. Pediatr Neurol 42(6):459\u2013461","journal-title":"Pediatr Neurol"},{"issue":"9","key":"1_CR000148","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1111\/j.1469-8749.2011.04028.x","volume":"53","author":"C Kehrer","year":"2011","unstructured":"Kehrer C, Blumenstock G, Gieselmann V, Kr\u00e4geloh-Mann I, Leukonet G (2011) The natural course of gross motor deterioration in metachromatic leukodystrophy. Dev Med Child Neurol 53(9):850\u2013855","journal-title":"Dev Med Child Neurol"},{"issue":"6","key":"1_CR000149","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1242\/dmm.008615","volume":"4","author":"KJ Kinghorn","year":"2011","unstructured":"Kinghorn KJ (2011) Pathological looping in the synucleinopathies: investigating the link between Parkinson\u2019s disease and Gaucher disease. Dis Model Mech 4(6):713\u2013715","journal-title":"Dis Model Mech"},{"issue":"10","key":"1_CR000150","doi-asserted-by":"publisher","first-page":"1485","DOI":"10.1586\/ern.11.135","volume":"11","author":"A Kohlsch\u00fctter","year":"2011","unstructured":"Kohlsch\u00fctter A, Eichler F (2011) Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother 11(10):1485\u20131496","journal-title":"Expert Rev Neurother"},{"issue":"9","key":"1_CR000151","doi-asserted-by":"publisher","first-page":"1700","DOI":"10.1016\/j.febslet.2009.10.021","volume":"584","author":"T Kolter","year":"2010","unstructured":"Kolter T, Sandhoff K (2010) Lysosomal degradation of membrane lipids. FEBS Lett 584(9): 1700\u20131712","journal-title":"FEBS Lett"},{"issue":"12","key":"1_CR000152","doi-asserted-by":"publisher","first-page":"1193","DOI":"10.1515\/BC.2004.154","volume":"385","author":"M K\u00f6lzer","year":"2004","unstructured":"K\u00f6lzer M, Ferlinz K, Bartelsen O, Hoops SL, Lang F, Sandhoff K (2004) Functional characterization of the postulated intramolecular sphingolipid activator protein domain of human acid sphingomyelinase. Biol Chem 385(12):1193\u20131195","journal-title":"Biol Chem"},{"issue":"1","key":"1_CR000153","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1177\/030098587901600101","volume":"16","author":"SD Kosanke","year":"1979","unstructured":"Kosanke SD, Pierce KR, Read WK (1979) Morphogenesis of light and electron microscopic lesions in porcine GM2-gangliosidosis. Vet Pathol 16(1):6\u201317","journal-title":"Vet Pathol"},{"issue":"5","key":"1_CR000154","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1177\/147323000803600533","volume":"36","author":"HG Kumperscak","year":"2008","unstructured":"Kumperscak HG, Dolzan V, Videtic A, Plesnicar BK (2008) Polymorphisms in genes encoding the serotonin and dopamine pathways in two sisters with metachromatic leukodystrophy. J Int Med Res 36(5):1123\u20131128","journal-title":"J Int Med Res"},{"issue":"6","key":"1_CR000155","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1097\/MOP.0b013e32834c20d9","volume":"23","author":"RH Lachmann","year":"2011","unstructured":"Lachmann RH (2011) Enzyme replacement therapy for lysosomal storage diseases. Curr Opin Pediatr 23(6):588\u2013593","journal-title":"Curr Opin Pediatr"},{"issue":"2","key":"1_CR000156","doi-asserted-by":"publisher","first-page":"48","DOI":"10.3345\/kjp.2012.55.2.48","volume":"55","author":"JY Lee","year":"2012","unstructured":"Lee JY, Lee BH, Kim GH, Jung CW, Lee J, Choi JH, Yoo HW (2012) Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups. Korean J Pediatr 55(2): 48\u201353","journal-title":"Korean J Pediatr"},{"issue":"2","key":"1_CR000157","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1006\/geno.2002.6686","volume":"79","author":"CM Li","year":"2002","unstructured":"Li CM, Park JH, Simonaro CM, He X, Gordon RE, Friedman AH, Ehleiter D, Paris F, Manova K, Hepbildikler S, Fuks Z, Sandhoff K, Kolesnick R, Schuchman EH (2002) Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes. Genomics 79(2):218\u2013224","journal-title":"Genomics"},{"issue":"4","key":"1_CR000158","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.ymgme.2011.05.005","volume":"103","author":"DS Lin","year":"2011","unstructured":"Lin DS, Hsiao CD, Liau I, Lin SP, Chiang MF, Chuang CK, Wang TJ, Wu TY, Jian YR, Huang SF, Liu HL (2011) CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model. Mol Genet Metab 103(4):367\u2013377","journal-title":"Mol Genet Metab"},{"issue":"8","key":"1_CR000159","doi-asserted-by":"publisher","first-page":"5760","DOI":"10.1074\/jbc.M006846200","volume":"276","author":"T Linke","year":"2001","unstructured":"Linke T, Wilkening G, Sadeghlar F, Mozcall H, Bernardo K, Schuchman E, Sandhoff K (2001) Interfacial regulation of acid ceramidase activity. Stimulation of ceramide degradation by lysosomal lipids and sphingolipid activator proteins. J Biol Chem 276(8):5760\u20135768","journal-title":"J Biol Chem"},{"key":"1_CR0001133","doi-asserted-by":"publisher","first-page":"1589","DOI":"10.1111\/j.1523-1755.2004.00924.x","volume":"66","author":"GE Linthorst","year":"2004","unstructured":"Linthorst GE, Hollak CE, Donker-Koopman WE, Strigland A, Aerts JM (2004) Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase slpha and beta. Kidney Int 66: 1589\u201395","journal-title":"Kidney Int"},{"issue":"11","key":"1_CR000160","doi-asserted-by":"publisher","first-page":"e27134","DOI":"10.1371\/journal.pone.0027134","volume":"6","author":"Y Liu","year":"2011","unstructured":"Liu Y, Gibson J, Wheeler J, Kwee LC, Santiago-Turla CM, Akafo SK, Lichter PR, Gaasterland DE, Moroi SE, Challa P, Herndon LW, Girkin CA, Budenz DL, Richards JE, Allingham RR, Hauser MA (2011) GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease. PLoS One 6(11):e27134","journal-title":"PLoS One"},{"key":"1_CR000161","doi-asserted-by":"publisher","first-page":"4731","DOI":"10.1182\/blood-2011-10-386862","volume":"119","author":"SM Lo","year":"2012","unstructured":"Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK (2012) Phenotypic diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease\/hematological malignancy phenotype by individual genome analysis. Blood 119:4731\u20134740","journal-title":"Blood"},{"issue":"6","key":"1_CR000162","doi-asserted-by":"publisher","first-page":"e20218","DOI":"10.1371\/journal.pone.0020218","volume":"6","author":"A \u0141ugowska","year":"2011","unstructured":"\u0141ugowska A, Poni\u0144ska J, Krajewski P, Broda G, P\u0142oski R (2011) Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? PLoS One 6(6):e20218","journal-title":"PLoS One"},{"issue":"3","key":"1_CR000163","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1006\/mgme.2001.3194","volume":"73","author":"P Luzi","year":"2001","unstructured":"Luzi P, Rafi MA, Zaka M, Curtis M, Vanier MT, Wenger DA (2001) Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). Mol Genet Metab 73(3):211\u2013223","journal-title":"Mol Genet Metab"},{"issue":"2","key":"1_CR000164","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1111\/j.1469-8749.2011.04163.x","volume":"54","author":"G Maegawa","year":"2012","unstructured":"Maegawa G (2012) GM2 gangliosidosis: the prototype of lysosomal storage disorders. Dev Med Child Neurol 54(2):104\u2013105","journal-title":"Dev Med Child Neurol"},{"key":"1_CR0001134","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1007\/s10072-012-0956-6","volume":"34","author":"A Malandrini","year":"2013","unstructured":"Malandrini A, D\u2019Eramo C, Palmeri S, Gaudiano C, Gambelli S, Sicurelli F, Berti G, Formichi P, Kuqo A, Dotti MT, Federico A (2013) Peripheral neuropathy in late-onset Krabbe disease: report of three cases.Neurol Sci 34:79\u201383","journal-title":"Neurol Sci"},{"issue":"9","key":"1_CR000167","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1016\/j.bbalip.2008.06.002","volume":"1781","author":"C Mao","year":"2008","unstructured":"Mao C, Obeid L (2008) Ceramidases: regulators of cellular responses mediated by ceramide, sphingosine and sphingosine-1-phosphate. Biochim Biophys Acta 1781(9):424\u2013434","journal-title":"Biochim Biophys Acta"},{"issue":"3","key":"1_CR000169","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1373\/clinchem.2006.082727","volume":"53","author":"DC Martin","year":"2007","unstructured":"Martin DC, Mark BL, Triggs-Raine BL, Natowicz MR (2007) Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England. Clin Chem 53(3): 392\u2013398","journal-title":"Clin Chem"},{"issue":"Suppl 1","key":"1_CR000170","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1111\/j.1471-4159.2007.04709.x","volume":"103","author":"J Matsuda","year":"2007","unstructured":"Matsuda J, Yoneshige A, Suzuki K (2007) The function of sphingolipids in the nervous system: lessons learnt from mouse models of specific sphingolipid activator protein deficiencies. J Neurochem 103(Suppl 1):32\u201338","journal-title":"J Neurochem"},{"key":"1_CR000171","doi-asserted-by":"publisher","first-page":"2599","DOI":"10.1093\/hmg\/dds086","volume":"21","author":"F Matthes","year":"2012","unstructured":"Matthes F, Stroobants S, Gerlach D, Wohlenberg C, Wessig C, Fogh J, Gieselmann V, Eckhardt M, D\u2019Hooge R, Matzner U (2012) Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age. Hum Mol Genet 21:2599\u20132609","journal-title":"Hum Mol Genet"},{"key":"1_CR000172","volume-title":"Gene Reviews\u2122 [Internet]","author":"MM McGovern","year":"2009","unstructured":"McGovern MM, Schuchman EH (2009) Acid sphingomyelinase defieciency. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) Gene Reviews\u2122 [Internet]. University of Washington, Seattle, WA"},{"issue":"23\u201324","key":"1_CR000173","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1007\/s10354-010-0841-y","volume":"160","author":"P Mikosch","year":"2010","unstructured":"Mikosch P, Hughes D (2010) An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr 160(23\u201324):609\u2013624","journal-title":"Wien Med Wochenschr"},{"issue":"13","key":"1_CR000174","doi-asserted-by":"publisher","first-page":"1988","DOI":"10.1096\/fj.00-0014com","volume":"14","author":"SR Miranda","year":"2000","unstructured":"Miranda SR, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ, Schuchman EH (2000) Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology. FASEB J 14(13):1988\u20131995","journal-title":"FASEB J"},{"issue":"2","key":"1_CR000175","doi-asserted-by":"publisher","first-page":"119","DOI":"10.2174\/187152409788452045","volume":"9","author":"R Misasi","year":"2009","unstructured":"Misasi R, Hozumi I, Inuzuka T, Capozzi A, Mattei V, Kuramoto Y, Shimeno H, Soeda S, Azuma N, Yamauchi T, Hiraiwa M (2009) Biochemistry and neurobiology of prosaposin: a potential therapeutic neuro-effector. Cent Nerv Syst Agents Med Chem 9(2):119\u2013131","journal-title":"Cent Nerv Syst Agents Med Chem"},{"issue":"3","key":"1_CR000176","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1016\/0006-291X(72)90381-6","volume":"48","author":"T Miyatake","year":"1972","unstructured":"Miyatake T, Suzuki K (1972) Globoid cell leukodystrophy: additional deficiency of psychosine galactosidase. Biochem Biophys Res Commun 48(3):539\u2013543","journal-title":"Biochem Biophys Res Commun"},{"issue":"9","key":"1_CR000177","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1038\/jhg.2009.70","volume":"54","author":"M Morita","year":"2009","unstructured":"Morita M, Saito S, Ikeda K, Ohno K, Sugawara K, Suzuki T, Togawa T, Sakuraba H (2009) Structural bases of GM1 gangliosidosis and Morquio B disease. J Hum Genet 54(9):510\u2013515","journal-title":"J Hum Genet"},{"issue":"3","key":"1_CR000178","doi-asserted-by":"publisher","first-page":"789","DOI":"10.1042\/BJ20111626","volume":"441","author":"TD Mullen","year":"2012","unstructured":"Mullen TD, Hannun YA, Obeid LM (2012) Ceramide synthases at the centre of sphingolipid metabolism and biology. Biochem J 441(3):789\u2013802","journal-title":"Biochem J"},{"issue":"4","key":"1_CR000179","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1007\/s11011-011-9258-6","volume":"26","author":"R Nada","year":"2011","unstructured":"Nada R, Gupta K, Lal SB, Vasishta RK (2011) An autopsy case of infantile GM1 gangliosidosis with adrenal calcification. Metab Brain Dis 26(4):307\u2013310","journal-title":"Metab Brain Dis"},{"issue":"10","key":"1_CR000180","doi-asserted-by":"publisher","first-page":"1559","DOI":"10.1002\/stem.701","volume":"29","author":"M Neri","year":"2011","unstructured":"Neri M, Ricca A, di Girolamo I, Alcala\u2019-Franco B, Cavazzin C, Orlacchio A, Martino S, Naldini L, Gritti A (2011) Neural stem cell gene therapy ameliorates pathology and function in a mouse model of globoid cell leukodystrophy. Stem Cells 29(10):1559\u20131571","journal-title":"Stem Cells"},{"issue":"3","key":"1_CR000181","doi-asserted-by":"publisher","first-page":"1801","DOI":"10.1074\/jbc.M111.293795","volume":"287","author":"U Ohto","year":"2012","unstructured":"Ohto U, Usui K, Ochi T, Yuki K, Satow Y, Shimizu T (2012) Crystal structure of human \u03b2-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. J Biol Chem 287(3):1801\u20131812","journal-title":"J Biol Chem"},{"issue":"32","key":"1_CR000182","doi-asserted-by":"publisher","first-page":"29948","DOI":"10.1074\/jbc.M303310200","volume":"278","author":"N Okino","year":"2003","unstructured":"Okino N, He X, Gatt S, Sandhoff K, Schuchman EH (2003) The reverse activity of human acid ceramidase. J Biol Chem 278(32):29948\u201329953","journal-title":"J Biol Chem"},{"issue":"3","key":"1_CR000183","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1016\/j.ymgme.2010.11.163","volume":"102","author":"E Osher","year":"2011","unstructured":"Osher E, Fattal-Valevski A, Sagie L, Urshanski N, Amir-Levi Y, Katzburg S, Peleg L, Lerman-Sagie T, Zimran A, Elstein D, Navon R, Stern N, Valevski A (2011) Pyrimethamine increases \u03b2-hexosaminidase A activity in patients with Late Onset Tay Sachs. Mol Genet Metab 102(3):356\u2013633","journal-title":"Mol Genet Metab"},{"issue":"1","key":"1_CR000184","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/s004010050857","volume":"96","author":"Y Oya","year":"1998","unstructured":"Oya Y, Nakayasu H, Fujita N, Suzuki K, Suzuki K (1998) Pathological study of mice with total deficiency of sphingolipid activator proteins (SAP knockout mice). Acta Neuropathol 96(1): 29\u201340","journal-title":"Acta Neuropathol"},{"issue":"1\u20133","key":"1_CR000185","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.bbaexp.2006.01.002","volume":"1732","author":"JH Park","year":"2005","unstructured":"Park JH, Eliyahu E, Narla G, DiFeo A, Martignetti JA, Schuchman EH (2005) KLF6 is one transcription factor involved in regulating acid ceramidase gene expression. Biochim Biophys Acta 1732(1\u20133):82\u201387","journal-title":"Biochim Biophys Acta"},{"issue":"12","key":"1_CR000186","doi-asserted-by":"publisher","first-page":"2133","DOI":"10.1016\/j.bbamem.2006.08.019","volume":"1758","author":"JH Park","year":"2006","unstructured":"Park JH, Schuchman EH (2006) Acid ceramidase and human disease. Biochim Biophys Acta 1758(12):2133\u20132138","journal-title":"Biochim Biophys Acta"},{"issue":"23\u201324","key":"1_CR000187","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1007\/s10354-010-0850-x","volume":"160","author":"GM Pastores","year":"2010","unstructured":"Pastores GM (2010) Neuropathic Gaucher disease. Wien Med Wochenschr 160(23\u201324):605\u2013608","journal-title":"Wien Med Wochenschr"},{"key":"1_CR000188","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1007\/978-1-4614-0653-2_13","volume":"724","author":"SJ Perlman","year":"2012","unstructured":"Perlman SJ, Mar S (2012) Leukodystrophies. Adv Exp Med Biol 724:154\u2013171","journal-title":"Adv Exp Med Biol"},{"issue":"2","key":"1_CR000189","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1006\/bmme.1995.1018","volume":"54","author":"L Peleg","year":"1995","unstructured":"Peleg L, Meltzer F, Karpati M, Goldman B (1995) GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A. Biochem Mol Med 54(2):126\u2013132","journal-title":"Biochem Mol Med"},{"issue":"6","key":"1_CR000190","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1513\/pats.201104-034MW","volume":"8","author":"I Petrache","year":"2011","unstructured":"Petrache I, Petrusca DN, Bowler RP, Kamocki K (2011) Involvement of ceramide in cell death responses in the pulmonary circulation. Proc Am Thorac Soc 8(6):492\u2013496","journal-title":"Proc Am Thorac Soc"},{"issue":"1","key":"1_CR000191","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/hmg\/5.1.1","volume":"5","author":"D Phaneuf","year":"1996","unstructured":"Phaneuf D, Wakamatsu N, Huang JQ, Borowski A, Peterson AC, Fortunato SR, Ritter G, Igdoura SA, Morales CR, Benoit G, Akerman BR, Leclerc D, Hanai N, Marth JD, Trasler JM, Gravel RA (1996) Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet 5(1):1\u201314","journal-title":"Hum Mol Genet"},{"key":"1_CR000192","doi-asserted-by":"publisher","first-page":"1154","DOI":"10.1007\/s11064-012-0728-y","volume":"37","author":"M Podbielska","year":"2012","unstructured":"Podbielska M, Krotkiewski H, Hogan EL (2012) Signaling and regulatory functions of bioactive sphingolipids as therapeutic targets in multiple sclerosis. Neurochem Res 37:1154\u20131169","journal-title":"Neurochem Res"},{"issue":"27","key":"1_CR000193","doi-asserted-by":"publisher","first-page":"9945","DOI":"10.1523\/JNEUROSCI.1802-11.2011","volume":"31","author":"AS Reddy","year":"2011","unstructured":"Reddy AS, Kim JH, Hawkins-Salsbury JA, Macauley SL, Tracy ET, Vogler CA, Han X, Song SK, Wozniak DF, Fowler SC, Klein RS, Sands MS (2011) Bone marrow transplantation augments the effect of brain- and spinal cord-directed adeno-associated virus 2\/5 gene therapy by altering inflammation in the murine model of globoid-cell leukodystrophy. J Neurosci 31(27):9945\u20139957","journal-title":"J Neurosci"},{"issue":"1","key":"1_CR000194","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1055\/s-0032-1306386","volume":"32","author":"DL Renaud","year":"2012","unstructured":"Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51\u201354","journal-title":"Semin Neurol"},{"key":"1_CR0001135","doi-asserted-by":"publisher","first-page":"916","DOI":"10.2174\/138920111795542705","volume":"12","author":"P Rozenfeld","year":"2011","unstructured":"Rozenfeld P, Neumann PM (2011) Treatment of Fabry disease: current and emerging strategies. Curr Pharm Biotechnol 12:916\u201322","journal-title":"Curr Pharm Biotechnol"},{"issue":"7","key":"1_CR000195","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1016\/j.braindev.2009.03.001","volume":"31","author":"N Sakai","year":"2009","unstructured":"Sakai N (2009) Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment. Brain Dev 31(7):485\u2013487","journal-title":"Brain Dev"},{"issue":"2","key":"1_CR000196","doi-asserted-by":"crossref","first-page":"373","DOI":"10.18388\/abp.1998_4232","volume":"45","author":"K Sandhoff","year":"1998","unstructured":"Sandhoff K, Kolter T (1998) Processing of sphingolipid activator proteins and the topology of lysosomal digestion. Acta Biochim Pol 45(2):373\u2013384","journal-title":"Acta Biochim Pol"},{"key":"1_CR000197","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1159\/000335038","volume":"10","author":"SP Sardi","year":"2012","unstructured":"Sardi SP, Singh P, Cheng SH, Shihabuddin LS, Schlossmacher MG (2012) Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models. Neurodegener Dis 10:195\u2013202","journal-title":"Neurodegener Dis"},{"key":"1_CR0001136","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1080\/08035320510031045","volume":"94","author":"E Schaefer","year":"2005","unstructured":"Schaefer E, Mehta A, Gal A (2005) Genotype and phenotype in Fabry disease; analysis of the Fabry outcome survey. Acta Paediatr Suppl 94:87\u201392","journal-title":"Acta Paediatr Suppl"},{"issue":"29","key":"1_CR000198","doi-asserted-by":"publisher","first-page":"18250","DOI":"10.1074\/jbc.273.29.18250","volume":"273","author":"SL Schissel","year":"1998","unstructured":"Schissel SL, Keesler GA, Schuchman EH, Williams KJ, Tabas I (1998) The cellular trafficking and zinc dependence of secretory and lysosomal sphingomyelinase, two products of the acid sphingomyelinase gene. J Biol Chem 273(29):18250\u201318259","journal-title":"J Biol Chem"},{"issue":"Suppl 1","key":"1_CR000199","first-page":"S48","volume":"47","author":"EH Schuchman","year":"2009","unstructured":"Schuchman EH (2009) The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int J Clin Pharmacol Ther 47(Suppl 1):S48\u2013S57","journal-title":"Int J Clin Pharmacol Ther"},{"issue":"6","key":"1_CR0001100","doi-asserted-by":"publisher","first-page":"pii: a0084804","DOI":"10.1101\/cshperspect.a004804","volume":"3","author":"H Schulze","year":"2011","unstructured":"Schulze H, Sandhoff K (2011) Lysosomal lipid storage diseases. Cold Spring Harb Perspect Biol 3(6):pii: a0084804. doi:10.1101\/cschperspect.a004804","journal-title":"Cold Spring Harb Perspect Biol"},{"issue":"11","key":"1_CR0001101","doi-asserted-by":"publisher","first-page":"1240","DOI":"10.1002\/humu.21327","volume":"31","author":"SA Scott","year":"2010","unstructured":"Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R (2010) Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 31(11):1240\u20131250","journal-title":"Hum Mutat"},{"issue":"5","key":"1_CR0001102","doi-asserted-by":"publisher","first-page":"865","DOI":"10.1086\/503750","volume":"78","author":"CM Simonaro","year":"2006","unstructured":"Simonaro CM, Park JH, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH (2006) Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. Am J Hum Genet 78(5):865\u2013870","journal-title":"Am J Hum Genet"},{"issue":"2","key":"1_CR0001103","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1111\/j.1469-8749.2011.04160.x","volume":"54","author":"NJ Smith","year":"2012","unstructured":"Smith NJ, Winstone AM, Stellitano L, Cox TM, Verity CM (2012) GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed. Dev Med Child Neurol 54(2):176\u2013182","journal-title":"Dev Med Child Neurol"},{"issue":"11","key":"1_CR0001104","doi-asserted-by":"publisher","first-page":"1119","DOI":"10.1038\/sj.bmt.1701485","volume":"22","author":"G Solders","year":"1998","unstructured":"Solders G, Celsing G, Hagenfeldt L, Ljungman P, Isberg B, Ringd\u00e9n O (1998) Improved peripheral nerve conduction, EEG and verbal IQ after bone marrow transplantation for adult metachromatic leukodystrophy. Bone Marrow Transplant 22(11):1119\u20131122","journal-title":"Bone Marrow Transplant"},{"issue":"12","key":"1_CR0001105","doi-asserted-by":"publisher","first-page":"4822","DOI":"10.1021\/ac200417u","volume":"83","author":"Z Sp\u00e1\u010dil","year":"2011","unstructured":"Sp\u00e1\u010dil Z, Elliott S, Reeber SL, Gelb MH, Scott CR, Ture\u010dek F (2011) Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases. Anal Chem 83(12):4822\u20134828","journal-title":"Anal Chem"},{"issue":"10","key":"1_CR0001106","doi-asserted-by":"publisher","first-page":"2971","DOI":"10.1093\/brain\/awq257","volume":"133","author":"ME Steenweg","year":"2010","unstructured":"Steenweg ME, Vanderver A, Blaser S, Bizzi A, de Koning TJ, Mancini GM, van Wieringen WN, Barkhof F, Wolf NI, van der Knaap MS (2010) Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 133(10):2971\u20132982","journal-title":"Brain"},{"issue":"14","key":"1_CR0001107","doi-asserted-by":"publisher","first-page":"2760","DOI":"10.1093\/hmg\/ddr175","volume":"20","author":"S Stroobants","year":"2011","unstructured":"Stroobants S, Gerlach D, Matthes F, Hartmann D, Fogh J, Gieselmann V, D\u2019Hooge R, Matzner U (2011) Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy. Hum Mol Genet 20(14): 2760\u20132769","journal-title":"Hum Mol Genet"},{"issue":"4065","key":"1_CR0001108","doi-asserted-by":"publisher","first-page":"1100","DOI":"10.1126\/science.178.4065.1100","volume":"178","author":"M Sugita","year":"1972","unstructured":"Sugita M, Dulaney JT, Moser HW (1972) Ceramidase deficiency in Farber\u2019s disease (lipogranulomatosis). Science 178(4065):1100\u20131102","journal-title":"Science"},{"issue":"4","key":"1_CR0001109","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1093\/hmg\/ddp531","volume":"19","author":"Y Sun","year":"2010","unstructured":"Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA (2010) Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet 19(4):634\u2013647","journal-title":"Hum Mol Genet"},{"issue":"15","key":"1_CR0001110","doi-asserted-by":"publisher","first-page":"2345","DOI":"10.1093\/hmg\/ddn135","volume":"17","author":"Y Sun","year":"2008","unstructured":"Sun Y, Witte DP, Ran H, Zamzow M, Barnes S, Cheng H, Han X, Williams MT, Skelton MR, Vorhees CV, Grabowski GA (2008) Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice. Hum Mol Genet 17(15):2345\u20132356","journal-title":"Hum Mol Genet"},{"issue":"11","key":"1_CR0001111","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1007\/s10038-003-0080-9","volume":"48","author":"A Tanaka","year":"2003","unstructured":"Tanaka A, Hoang LT, Nishi Y, Maniwa S, Oka M, Yamano T (2003) Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form. J Hum Genet 48(11):571\u2013574","journal-title":"J Hum Genet"},{"issue":"3","key":"1_CR0001112","first-page":"173","volume":"9","author":"AL Tarabuso","year":"2011","unstructured":"Tarabuso AL (2011) Fabry disease. Skinmed 9(3):173\u2013177","journal-title":"Skinmed"},{"issue":"1\u20132","key":"1_CR0001113","doi-asserted-by":"publisher","first-page":"103","DOI":"10.2152\/jmi.53.103","volume":"53","author":"Y Tatano","year":"2006","unstructured":"Tatano Y, Takeuchi N, Kuwahara J, Sakuraba H, Takahashi T, Takada G, Itoh K (2006) Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein\/cathepsin A and neuraminidase-1 deficiencies. J Med Invest 53(1\u20132):103\u2013112","journal-title":"J Med Invest"},{"issue":"1","key":"1_CR0001114","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1177\/0883073809334382","volume":"25","author":"F Tinsa","year":"2010","unstructured":"Tinsa F, Caillaud C, Vanier MT, Bousnina D, Boussetta K, Bousnina S (2010) An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient. J Child Neurol 25(1):82\u201386","journal-title":"J Child Neurol"},{"issue":"5","key":"1_CR0001116","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1023\/A:1005590316064","volume":"22","author":"J Tohyama","year":"1999","unstructured":"Tohyama J, Oya Y, Ezoe T, Vanier MT, Nakayasu H, Fujita N, Suzuki K (1999) Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber disease. J Inherit Metab Dis 22(5):649\u2013662","journal-title":"J Inherit Metab Dis"},{"issue":"28","key":"1_CR0001137","doi-asserted-by":"publisher","first-page":"21560","DOI":"10.1074\/jbc.M110.118588","volume":"285","author":"IB Tomasic","year":"2010","unstructured":"Tomasic IB, Metcalf MC, Guce AI, Clark NE, Garman SC (2010) Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases. J Biol Chem 285(28):21560\u201321566","journal-title":"J Biol Chem"},{"issue":"5","key":"1_CR0001117","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1097\/WCO.0b013e32834a9433","volume":"24","author":"K Toyooka","year":"2011","unstructured":"Toyooka K (2011) Fabry disease. Curr Opin Neurol 24(5):463\u2013468","journal-title":"Curr Opin Neurol"},{"issue":"20","key":"1_CR0001118","doi-asserted-by":"publisher","first-page":"3293","DOI":"10.1007\/s00018-011-0686-6","volume":"68","author":"JP Truman","year":"2011","unstructured":"Truman JP, Al Gadban MM, Smith KJ, Hammad SM (2011) Acid sphingomyelinase in macrophage biology. Cell Mol Life Sci 68(20):3293\u20133305","journal-title":"Cell Mol Life Sci"},{"issue":"15","key":"1_CR0001119","doi-asserted-by":"publisher","first-page":"2987","DOI":"10.1093\/hmg\/ddq204","volume":"19","author":"AM Vaccaro","year":"2010","unstructured":"Vaccaro AM, Motta M, Tatti M, Scarpa S, Masuelli L, Bhat M, Vanier MT, Tylki-Szymanska A, Salvioli R (2010) Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting. Hum Mol Genet 19(15):2987\u20132997","journal-title":"Hum Mol Genet"},{"issue":"6","key":"1_CR0001120","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1007\/s00401-004-0848-9","volume":"107","author":"JP van der Voorn","year":"2004","unstructured":"van der Voorn JP, Kamphorst W, van der Knaap MS, Powers JM (2004) The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction. Acta Neuropathol 107(6):539\u2013545","journal-title":"Acta Neuropathol"},{"issue":"Pt 14","key":"1_CR0001121","doi-asserted-by":"publisher","first-page":"2502","DOI":"10.1242\/jcs.067686","volume":"23","author":"A W\u00e4he","year":"2010","unstructured":"W\u00e4he A, Kasmapour B, Schmaderer C, Liebl D, Sandhoff K, Nykjaer A, Griffiths G, Gutierrez MG (2010) Golgi-to-phagosome transport of acid sphingomyelinase and prosaposin is mediated by sortilin. J Cell Sci 23(Pt 14):2502\u20132511","journal-title":"J Cell Sci"},{"issue":"2","key":"1_CR0001122","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1016\/S1046-5928(02)00599-5","volume":"27","author":"M Wendeler","year":"2003","unstructured":"Wendeler M, Lemm T, Weisgerber J, Hoernschemeyer J, Bartelsen O, Schepers U, Sandhoff K (2003) Expression of recombinant human GM2-activator protein in insect cells: purification and characterization by mass spectrometry. Protein Expr Purif 27(2):259\u2013266","journal-title":"Protein Expr Purif"},{"issue":"47","key":"1_CR0001123","doi-asserted-by":"publisher","first-page":"8848","DOI":"10.1002\/anie.200902620","volume":"48","author":"T Wennekes","year":"2009","unstructured":"Wennekes T, van den Berg RJ, Boot RG, van der Marel GA, Overkleeft HS, Aerts JM (2009) Glycosphingolipids\u2013nature, function, and pharmacological modulation. Angew Chem Int Ed Engl 48(47):8848\u20138869","journal-title":"Angew Chem Int Ed Engl"},{"key":"1_CR0001124","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1007\/978-1-4614-0650-1_9","volume":"721","author":"TS Worgall","year":"2011","unstructured":"Worgall TS (2011) Sphingolipid synthetic pathways are major regulators of lipid homeostasis. Adv Exp Med Biol 721:139\u2013148","journal-title":"Adv Exp Med Biol"},{"issue":"2","key":"1_CR0001125","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1016\/j.bbr.2008.06.016","volume":"193","author":"S Yamanaka","year":"2008","unstructured":"Yamanaka S, Johnson MD, Grinberg A, Westphal H, Crawley JN, Taniike M, Suzuki K, Proia RL (2008) Early deficits in motor coordination and cognitive dysfunction in a mouse model of the neurodegenerative lysosomal storage disorder, Sandhoff disease. Behav Brain Res 193(2): 315\u2013319","journal-title":"Behav Brain Res"},{"issue":"4","key":"1_CR0001126","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1023\/A:1016562626961","volume":"25","author":"O Yamato","year":"2002","unstructured":"Yamato O, Matsuki N, Satoh H, Inaba M, Ono K, Yamasaki M, Maede Y (2002) Sandhoff disease in a golden retriever dog. J Inherit Metab Dis 25(4):319\u2013320","journal-title":"J Inherit Metab Dis"},{"key":"1_CR0001127","doi-asserted-by":"crossref","first-page":"248135","DOI":"10.1155\/2012\/248135","volume":"2012","author":"SA Young","year":"2012","unstructured":"Young SA, Mina JG, Denny PW, Smith TK (2012) Sphingolipid and ceramide homeostasis: potential therapeutic targets. Biochem Res Int 2012:248135","journal-title":"Biochem Res Int"},{"issue":"17","key":"1_CR0001128","doi-asserted-by":"publisher","first-page":"2456","DOI":"10.1016\/j.yexcr.2011.07.017","volume":"317","author":"L Yuan","year":"2011","unstructured":"Yuan L, Morales CR (2011) Prosaposin sorting is mediated by oligomerization. Exp Cell Res 317(17):2456\u20132467","journal-title":"Exp Cell Res"},{"issue":"5","key":"1_CR0001129","doi-asserted-by":"publisher","first-page":"454","DOI":"10.2174\/156652410791608225","volume":"10","author":"YH Zeidan","year":"2010","unstructured":"Zeidan YH, Hannun YA (2010) The acid sphingomyelinase\/ceramide pathway: biomedical significance and mechanisms of regulation. Curr Mol Med 10(5):454\u2013466","journal-title":"Curr Mol Med"},{"issue":"1","key":"1_CR0001130","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1096\/fj.07-8967com","volume":"22","author":"YH Zeidan","year":"2008","unstructured":"Zeidan YH, Wu BX, Jenkins RW, Obeid LM, Hannun YA (2008) A novel role for protein kinase C delta-mediated phosphorylation of acid sphingomyelinase in UV light-induced mitochondrial injury. FASEB J 22(1):183\u2013193","journal-title":"FASEB J"},{"issue":"2","key":"1_CR0001131","doi-asserted-by":"publisher","first-page":"106","DOI":"10.3109\/15622975.2011.559273","volume":"13","author":"H Zhang","year":"2012","unstructured":"Zhang H, Li D, Su Y, Jiang S, Xu Y, Jiang K, Cui D (2012) Identification of the N-acylsphingosine amidohydrolase 1 gene (ASAH1) for susceptibility to schizophrenia in a Han Chinese population. World J Biol Psychiatry 13(2):106\u2013113","journal-title":"World J Biol Psychiatry"}],"container-title":["Handbook of Experimental Pharmacology","Sphingolipids: Basic Science and Drug Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-7091-1368-4_1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T03:13:43Z","timestamp":1674530023000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-3-7091-1368-4_1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"ISBN":["9783709113677","9783709113684"],"references-count":129,"URL":"https:\/\/doi.org\/10.1007\/978-3-7091-1368-4_1","relation":{},"ISSN":["0171-2004","1865-0325"],"issn-type":[{"type":"print","value":"0171-2004"},{"type":"electronic","value":"1865-0325"}],"subject":[],"published":{"date-parts":[[2013]]},"assertion":[{"value":"9 March 2013","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}