{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T07:57:40Z","timestamp":1789545460563,"version":"build-2803163510"},"reference-count":46,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["FOR2509"],"award-info":[{"award-number":["FOR2509"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["BR2120\/8-1"],"award-info":[{"award-number":["BR2120\/8-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["STR443\/6-1"],"award-info":[{"award-number":["STR443\/6-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["TH1461\/7-1"],"award-info":[{"award-number":["TH1461\/7-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministerium fuer Wissenschaft, Forschung und Kunst Baden Wuerttemberg","award":["33-7533-7-11.9\/3\/2"],"award-info":[{"award-number":["33-7533-7-11.9\/3\/2"]}]},{"DOI":"10.13039\/100011102","name":"European Union Seventh Framework Programme","doi-asserted-by":"publisher","award":["278535"],"award-info":[{"award-number":["278535"]}],"id":[{"id":"10.13039\/100011102","id-type":"DOI","asserted-by":"publisher"}]},{"name":"SFB\/TRR83"}],"content-domain":{"domain":["mgmjournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.ymgme.2018.01.008","type":"journal-article","created":{"date-parts":[[2018,1,31]],"date-time":"2018-01-31T05:31:35Z","timestamp":1517376695000},"page":"364-374","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG"],"prefix":"10.1016","volume":"123","author":[{"given":"Bianca","family":"Dimitrov","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nastassja","family":"Himmelreich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes L.","family":"Hipgrave Ederveen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"L\u00fcchtenborg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen G.","family":"Okun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maximilian","family":"Breuer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Marlen","family":"Hutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Carl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Guglielmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Hellwig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai Christian","family":"Thiemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Jost","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verena","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Staufner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg F.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Hackenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nagarajan","family":"Paramasivam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4683-3174","authenticated-orcid":false,"given":"Stefan","family":"Wiemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roland","family":"Eils","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5896-4086","authenticated-orcid":false,"given":"Matthias","family":"Schlesner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabine","family":"Strahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britta","family":"Br\u00fcgger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manfred","family":"Wuhrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Christoph Korenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Thiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2018.01.008_bb0005","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj2500001","article-title":"Regulation of intracellular pH in eukaryotic cells","volume":"250","author":"Madshus","year":"1988","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0010","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1038\/nrm2820","article-title":"Sensors and regulators of intracellular pH","volume":"11","author":"Casey","year":"2010","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0015","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1016\/j.bbabio.2014.01.018","article-title":"Eukaryotic V-ATPase: novel structural findings and functional insights","volume":"1837","author":"Marshansky","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2018.01.008_bb0020","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1042\/bj3240697","article-title":"The vacuolar H+-ATPase: a universal proton pump of eukaryotes","volume":"324","author":"Finbow","year":"1997","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0025","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/j.tibs.2015.08.005","article-title":"Recent insights into the structure, regulation, and function of the V-ATPases","volume":"40","author":"Cotter","year":"2015","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0030","doi-asserted-by":"crossref","first-page":"3691","DOI":"10.1093\/ndt\/gfs442","article-title":"Genetic causes and mechanisms of distal renal tubular acidosis","volume":"27","author":"Batlle","year":"2012","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0035","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.ajhg.2016.12.010","article-title":"Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa","volume":"100","author":"Van Damme","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0040","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1093\/hmg\/9.13.2059","article-title":"Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis","volume":"9","author":"Kornak","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0045","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/77131","article-title":"Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis","volume":"25","author":"Frattini","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0050","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1097\/00041552-200209000-00013","article-title":"Inherited disorders of the H+-ATPase","volume":"11","author":"Borthwick","year":"2002","journal-title":"Curr. Opin. Nephrol. Hypertens."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0055","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1016\/j.parkreldis.2015.10.001","article-title":"A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism","volume":"21","author":"Gupta","year":"2015","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0060","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1007\/s10545-017-0050-6","article-title":"What is new in CDG?","volume":"40","author":"Jaeken","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0065","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng.2007.45","article-title":"Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2","volume":"40","author":"Kornak","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0070","doi-asserted-by":"crossref","DOI":"10.1038\/ncomms11600","article-title":"ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation","volume":"7","author":"Jansen","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0075","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1172\/JCI2350","article-title":"Carbohydrate-deficient glycoprotein syndrome type 1b. Phosphomannose isomerase deficiency and mannose therapy","volume":"101","author":"Niehues","year":"1998","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0080","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1373\/clinchem.2003.022541","article-title":"Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis","volume":"49","author":"Wopereis","year":"2003","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0085","doi-asserted-by":"crossref","first-page":"3623","DOI":"10.1093\/hmg\/ddq278","article-title":"Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation","volume":"19","author":"L\u00fcbbehusen","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0090","doi-asserted-by":"crossref","first-page":"5784","DOI":"10.1021\/ac500335t","article-title":"High-throughput profiling of protein N-glycosylation by MALDI-TOF-MS employing linkage-specific sialic acid esterification","volume":"86","author":"Reiding","year":"2014","journal-title":"Anal. Chem."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0095","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.ymgme.2017.06.014","article-title":"Impact of clinical exomes in neurodevelopmental and neurometabolic disorders","volume":"121","author":"Evers","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0100","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1172\/JCI0214010","article-title":"Deficiency of UDP-galactose: N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type II","volume":"109","author":"Hansske","year":"2002","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0105","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1016\/j.molmet.2015.07.006","article-title":"Molecular regulation of urea cycle function by the liver glucocorticoid receptor","volume":"4","author":"Okun","year":"2015","journal-title":"Mol. Metab."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0110","doi-asserted-by":"crossref","first-page":"9970","DOI":"10.1074\/jbc.M113.502914","article-title":"The nuclear calcium signaling target, activating transcription factor 3 (ATF3), protects against dendrotoxicity and facilitates the recovery of synaptic transmission after an excitotoxic insult","volume":"289","author":"Ahlgren","year":"2014","journal-title":"J. Biol.Chem."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0115","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-1-62703-487-6_1","article-title":"Quantitative analysis of cellular lipids by nano-electrospray ionization mass spectrometry","volume":"1033","author":"\u00d6zbalci","year":"2013","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0120","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1146\/annurev.nutr.22.012502.114457","article-title":"Ceruloplasmin: metabolism and function","volume":"22","author":"Hellman","year":"2002","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0125","first-page":"359","article-title":"Severe reductions in transcripts for cytochrome c oxidase during erythropoiesis in vitro do not lead to inactive mitochondria in reticulocytes","volume":"19","author":"Nijhof","year":"1991","journal-title":"Exp. Hematol."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0130","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/j.bbrc.2013.06.095","article-title":"Copper deficiency alters cell bioenergetics and induces mitochondrial fusion through up-regulation of MFN2 and OPA1 in erythropoietic cells","volume":"437","author":"Bustos","year":"2013","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0135","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1016\/j.cmet.2017.05.007","article-title":"Cytochrome c oxidase activity is a metabolic checkpoint that regulates cell fate decisions during T cell activation and differentiation","volume":"25","author":"Tarasenko","year":"2017","journal-title":"Cell Metab."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0140","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S0945-053X(98)90012-9","article-title":"Lysyl oxidase: properties, regulation and multiple functions in biology","volume":"16","author":"Smith-Mungo","year":"1998","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0145","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1399-0004.1997.tb02430.x","article-title":"Congenital cutis laxa and lysyl oxidase deficiency","volume":"51","author":"Khakoo","year":"1997","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0150","series-title":"Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment","first-page":"237","volume":"13","author":"Kodama","year":"2012"},{"key":"10.1016\/j.ymgme.2018.01.008_bb0155","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.matbio.2013.07.006","article-title":"Cutis laxa: intersection of elastic fiber biogenesis, TGF\u03b2 signaling, the secretory pathway and metabolism","volume":"33","author":"Urban","year":"2014","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0160","doi-asserted-by":"crossref","first-page":"560","DOI":"10.1046\/j.1365-2133.2000.03379.x","article-title":"Pencillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson's disease","volume":"142","author":"Hill","year":"2000","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0165","series-title":"GeneReviews\u00ae [Internet]. Seattle (WA)","article-title":"ATP6V0A2-Related Cutis Laxa","author":"Van Maldergem","year":"2009"},{"key":"10.1016\/j.ymgme.2018.01.008_bb0170","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.bbadis.2011.02.011","article-title":"Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern","volume":"1812","author":"Mohamed","year":"2011","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2018.01.008_bb0175","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.ymgmr.2014.04.003","article-title":"ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA","volume":"1","author":"Bahena-Bahena","year":"2014","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0180","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1146\/annurev.nutr.21.1.167","article-title":"Vitamin A, infection, and immune function","volume":"21","author":"Stephensen","year":"2001","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0185","series-title":"Vitamins in the Prevention of Human Diseases","first-page":"7","article-title":"Vitamin A - retinol","author":"Barua","year":"2011"},{"key":"10.1016\/j.ymgme.2018.01.008_bb0190","doi-asserted-by":"crossref","first-page":"453","DOI":"10.3390\/jcm3020453","article-title":"The roles of vitamin A in the regulation of carbohydrate, lipid, and protein metabolism","volume":"3","author":"Chen","year":"2014","journal-title":"J. Clin. Med."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0195","doi-asserted-by":"crossref","first-page":"1678S","DOI":"10.1093\/ajcn\/80.6.1678S","article-title":"Sunlight and vitamin D for bone health and prevention of autoimmune diseases, cancers, and cardiovascular disease","volume":"80","author":"Holick","year":"2004","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0200","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1080\/10408360802118625","article-title":"Vitamin E in human health and disease","volume":"45","author":"Clarke","year":"2008","journal-title":"Crit. Rev. Clin. Lab. Sci."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0205","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1038\/nrd3318","article-title":"Vitamin D, disease and therapeutic opportunities","volume":"9","author":"Plum","year":"2010","journal-title":"Nat. Rev. Drug Discov."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0210","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1016\/j.jcv.2010.12.006","article-title":"Vitamin D and the anti-viral state","volume":"50","author":"Beard","year":"2011","journal-title":"J. Clin. Virol."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0215","first-page":"27","article-title":"Fat-soluble vitamins: clinical indications and current challenges for chromatographic measurement","volume":"37","author":"Albahrani","year":"2016","journal-title":"Clin. Biochem. Rev."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0220","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1042\/bj3210465","article-title":"Organization of the human beta-1,2-N-acetylglucosaminyltransferase I gene (MGAT1), which controls complex and hybrid N-glycan synthesis","volume":"321","author":"Yip","year":"1997","journal-title":"Biochem. J."},{"key":"10.1016\/j.ymgme.2018.01.008_bb0225","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1016\/j.molcel.2012.08.003","article-title":"Failure of amino acid homeostasis causes cell death following proteasome inhibition","volume":"48","author":"Suraweera","year":"2012","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ymgme.2018.01.008_bb0230","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1093\/gerona\/glu129","article-title":"ER stress response in human cellular models of senescence","volume":"70","author":"Matos","year":"2015","journal-title":"J. Gerontol. A. Biol. Sc. Med. Sci."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217307643?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719217307643?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,24]],"date-time":"2018-08-24T11:54:49Z","timestamp":1535111689000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719217307643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":46,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,3]]}},"alternative-id":["S1096719217307643"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2018.01.008","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2018.01.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}