{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T10:15:46Z","timestamp":1791281746131,"version":"4.1.0"},"reference-count":75,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,7,12]],"date-time":"2007-07-12T00:00:00Z","timestamp":1184198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,10]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Patients with types A and B Niemann\u2013Pick disease (NPD) have an inherited deficiency of acid sphingomyelinase (ASM) activity. The clinical spectrum of this disorder ranges from the infantile, neurological form that results in death by 3 years of age (type A NPD) to the non\u2010neurological form (type B NPD) that is compatible with survival into adulthood. Intermediate cases also have been reported, and the disease is best thought of as a single entity with a spectrum of phenotypes. ASM deficiency is panethnic, but appears to be more frequent in individuals of Middle Eastern and North African descent. Current estimates of the disease incidence range from ~0.5 to 1 per 100 000 births. However, these approximations likely under estimate the true frequency of the disorder since they are based solely on cases referred to biochemical testing laboratories for enzymatic confirmation. The gene encoding ASM (<jats:italic>SMPD1<\/jats:italic>) has been studied extensively; it resides within an imprinted region on chromosome 11, and is preferentially expressed from the maternal chromosome. Over 100 <jats:italic>SMPD1<\/jats:italic> mutations causing ASM\u2010deficient NPD have been described, and some useful genotype\u2013phenotype correlations have been made. Based on these findings, DNA\u2010based carrier screening has been implemented in the Ashkenazi Jewish community. ASM \u2018knockout\u2019 mouse models also have been constructed and used to investigate disease pathogenesis and treatment. Based on these studies in the mouse model, an enzyme replacement therapy clinical trial has recently begun in adult patients with non\u2010neurological ASM\u2010deficient NPD.<\/jats:p>","DOI":"10.1007\/s10545-007-0632-9","type":"journal-article","created":{"date-parts":[[2007,7,16]],"date-time":"2007-07-16T18:04:01Z","timestamp":1184609041000},"page":"654-663","source":"Crossref","is-referenced-by-count":216,"title":["The pathogenesis and treatment of acid sphingomyelinase\u2010deficient Niemann\u2013Pick disease"],"prefix":"10.1002","volume":"30","author":[{"given":"E. H.","family":"Schuchman","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences Mount Sinai School of Medicine 1425 Madison Avenue, Room 14\u201020A New York NY 10029 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,7,12]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2005.03.011"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.55.2.366"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289703600304"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb02116.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1961.tb13499.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010209"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1194\/jlr.M500136-JLR200"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90246-B"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309465200"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.3780311"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2005.08.020"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509062102"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-6147(03)00158-5"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.7400208"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/0-306-47931-1_12"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1207146"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-004-0539-y"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0167-4838(99)00069-2"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M301936200"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0795-288"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00747.2005"},{"key":"e_1_2_1_23_1","first-page":"775","article-title":"Combined bone marrow and intracerebral mesenchymal stem cell transplantation leads to synergistic visceral and neurological improvements in Niemann\u2013Pick disease mice","volume":"26","author":"Jin HK","year":"2003","journal-title":"Mol Ther"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030381001"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1206702"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.60.1.643"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2003.144"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1515\/BC.2004.154"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsgi.2003.07.004"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0893-1"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.9.3748"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115380"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V80.8.2081.2081"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020414"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5940"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2002.6686"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cdd.4400775"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.1967"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.02.048"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiol.2381041696"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1042\/BC20060051"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm026"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-199804150-00005"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3301300"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.00-0014com"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1038\/80442"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.00367"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2005.07.687"},{"key":"e_1_2_1_50_1","first-page":"83","article-title":"Niemann\u2013Pick disease in adult: report of a case surgically treated","volume":"38","author":"Mylla Neto G","year":"1983","journal-title":"Rev Hosp Clin Fac Med Sao Paulo"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.165.1.2103113"},{"key":"e_1_2_1_52_1","first-page":"3124","article-title":"Transcriptional gene expression profiles of colorectal adenoma, adenocarcinoma, and normal tissue examined by oligonucleotide arrays","volume":"61","author":"Notterman DA","year":"2001","journal-title":"Cancer Res"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(05)80010-8"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-5671-5"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201044"},{"key":"e_1_2_1_56_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9263"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900075"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M303022200"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80091-4"},{"key":"e_1_2_1_60_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-198707000-00014"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.31.18431"},{"key":"e_1_2_1_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)40138-5"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1997.1.13"},{"key":"e_1_2_1_64_1","first-page":"3589","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Schuchman EH","year":"2001"},{"key":"e_1_2_1_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)93007-3"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.11.3160"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90366-Z"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1086\/345074"},{"key":"e_1_2_1_69_1","doi-asserted-by":"publisher","DOI":"10.1086\/503750"},{"key":"e_1_2_1_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840170109"},{"key":"e_1_2_1_71_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01247328"},{"key":"e_1_2_1_72_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000009950.81514.c8"},{"key":"e_1_2_1_73_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(95)00050-E"},{"key":"e_1_2_1_74_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bmcl.2006.06.080"},{"key":"e_1_2_1_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.06.034"},{"key":"e_1_2_1_76_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4757-5806-1_10"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0632-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0632-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:02:01Z","timestamp":1694754121000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0632-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,12]]},"references-count":75,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,10]]}},"alternative-id":["10.1007\/s10545-007-0632-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0632-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,12]]}}}