{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T01:35:29Z","timestamp":1790904929799,"version":"4.1.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["brainanddevelopment.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Brain and Development"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1016\/j.braindev.2022.09.006","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T19:18:24Z","timestamp":1665256704000},"page":"134-139","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Perinatal lethal Gaucher disease: A case report and review of literature"],"prefix":"10.1016","volume":"45","author":[{"given":"Rie","family":"Chida","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaru","family":"Shimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Ishida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Suganami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaku","family":"Yamanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"15","key":"10.1016\/j.braindev.2022.09.006_b0005","first-page":"e2119","article-title":"The natural history of type 2 Gaucher disease in the 21st century: a retrospective study","volume":"95","author":"Lal","year":"2020","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.braindev.2022.09.006_b0010","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/ajmg.a.20117","article-title":"Perinatal-lethal Gaucher disease","volume":"120A","author":"Mignot","year":"2003","journal-title":"Am J Med Genet A"},{"issue":"7","key":"10.1016\/j.braindev.2022.09.006_b0015","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1093\/hmg\/3.7.1183","article-title":"New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P","volume":"3","author":"Uchiyama","year":"1994","journal-title":"Hum Mol Genet"},{"issue":"2","key":"10.1016\/j.braindev.2022.09.006_b0020","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1136\/jmg.33.2.132","article-title":"The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease","volume":"33","author":"Sidransky","year":"1996","journal-title":"J Med Genet"},{"issue":"1","key":"10.1016\/j.braindev.2022.09.006_b0025","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<41::AID-AJMG9>3.0.CO;2-S","article-title":"Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene","volume":"73","author":"Tayebi","year":"1997","journal-title":"Am J Med Genet"},{"issue":"8","key":"10.1016\/j.braindev.2022.09.006_b0030","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1002\/(SICI)1097-0223(199708)17:8<765::AID-PD122>3.0.CO;2-3","article-title":"Prenatal ultrasound findings in a fetus diagnosed with Gaucher\u2019s disease (type 2) at birth","volume":"17","author":"Rowlands","year":"1997","journal-title":"Prenat Diagn"},{"issue":"4","key":"10.1016\/j.braindev.2022.09.006_b0035","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1006\/mgme.1998.2675","article-title":"Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus","volume":"63","author":"Reissner","year":"1998","journal-title":"Mol Genet Metab"},{"issue":"5","key":"10.1016\/j.braindev.2022.09.006_b0040","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's disease","volume":"43","author":"Tayebi","year":"1998","journal-title":"Pediatr Res"},{"issue":"4","key":"10.1016\/j.braindev.2022.09.006_b0045","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/sj.ejhg.5200315","article-title":"Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?","volume":"7","author":"Stone","year":"1999","journal-title":"Eur J Hum Genet"},{"issue":"2","key":"10.1016\/j.braindev.2022.09.006_b0050","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.bcmd.2005.04.007","article-title":"Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]\/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease","volume":"35","author":"Chab\u00e1s","year":"2005","journal-title":"Blood Cells Mol Dis"},{"issue":"5\u20136","key":"10.1016\/j.braindev.2022.09.006_b0055","first-page":"381","article-title":"A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene","volume":"24","author":"Akdag","year":"2011","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"3","key":"10.1016\/j.braindev.2022.09.006_b0060","doi-asserted-by":"crossref","first-page":"240","DOI":"10.2350\/09-11-0744-CR.1","article-title":"Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations","volume":"14","author":"Goebl","year":"2011","journal-title":"Pediatr Dev Pathol"},{"key":"10.1016\/j.braindev.2022.09.006_b0065","unstructured":"Koyano K, Nii K, Jinnai W, Kondo S, Yasuda S, Kusaka T. A case of perinatal lethal Gaucher disease diagnosed by characteristic skin, hepatosplenomegaly, and thrombocytopenia. Gaucher Dis Casebook. 2015:26-30 (Japanese)."},{"issue":"5","key":"10.1016\/j.braindev.2022.09.006_b0070","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1111\/ped.13247","article-title":"Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease","volume":"59","author":"Adachi","year":"2017","journal-title":"Pediatr Int"},{"issue":"6","key":"10.1016\/j.braindev.2022.09.006_b0075","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/s10038-018-0438-7","article-title":"High-risk screening for Gaucher disease in patients with neurological symptoms","volume":"63","author":"Momosaki","year":"2018","journal-title":"J Hum Genet"},{"issue":"4","key":"10.1016\/j.braindev.2022.09.006_b0080","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1007\/s11011-018-0236-0","article-title":"Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey","volume":"33","author":"Bulut","year":"2018","journal-title":"Metab Brain Dis"},{"key":"10.1016\/j.braindev.2022.09.006_b0085","first-page":"2549451","article-title":"Perinatal lethal Gaucher disease due to RecNcil recombinant mutation in the GBA gene presenting with Hydrops fetalis and severe congenital anemia","volume":"2018","author":"Bhutada","year":"2018","journal-title":"Case Rep Pathol"},{"key":"10.1016\/j.braindev.2022.09.006_b0090","doi-asserted-by":"crossref","first-page":"201","DOI":"10.3389\/fped.2019.00201","article-title":"A neonatal case with perinatal lethal Gaucher disease associated with missense G234E and H413P heterozygous mutations","volume":"7","author":"Wei","year":"2019","journal-title":"Front Pediatr"},{"issue":"1","key":"10.1016\/j.braindev.2022.09.006_b0095","doi-asserted-by":"crossref","first-page":"e14873","DOI":"10.1111\/ped.14873","article-title":"An infant with type II Gaucher disease treated with enzyme replacement therapy","volume":"64","author":"Ebihara","year":"2022","journal-title":"Pediatr Int"},{"issue":"3","key":"10.1016\/j.braindev.2022.09.006_b0100","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1086\/367850","article-title":"Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease","volume":"72","author":"Tayebi","year":"2003","journal-title":"Am J Hum Genet"}],"container-title":["Brain and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760422001656?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0387760422001656?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T19:50:43Z","timestamp":1759953043000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0387760422001656"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["S0387760422001656"],"URL":"https:\/\/doi.org\/10.1016\/j.braindev.2022.09.006","relation":{},"ISSN":["0387-7604"],"issn-type":[{"value":"0387-7604","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Perinatal lethal Gaucher disease: A case report and review of literature","name":"articletitle","label":"Article Title"},{"value":"Brain and Development","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.braindev.2022.09.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}