{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,8]],"date-time":"2024-06-08T14:03:35Z","timestamp":1717855415625},"reference-count":36,"publisher":"Walter de Gruyter GmbH","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Most inborn errors of metabolism (IEMs) are inherited in an autosomal recessive manner. IEMs are one of the major concerns in Iran due to its extensive consanguineous marriages. Herein, we report two patients with two co-existent IEMs: a girl affected by classic phenylketonuria (PKU) and maple syrup urine disease (MSUD) and a male patient affected with Sandhoff disease and PKU, where Sandhoff disease was suspected due to the presence of a cherry-red spot in the eyes at 6 months which is unrelated to PKU. Sequencing of candidate genes in the first patient revealed one novel and three recurrent compound heterozygous mutations of p.Ser231Pro and p.Ala300Ser in the<\/jats:p>","DOI":"10.1515\/jpem-2016-0096","type":"journal-article","created":{"date-parts":[[2016,9,28]],"date-time":"2016-09-28T10:14:32Z","timestamp":1475057672000},"source":"Crossref","is-referenced-by-count":6,"title":["Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity"],"prefix":"10.1515","volume":"29","author":[{"given":"Maryam","family":"Abiri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saeed","family":"Talebi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jouni","family":"Uitto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leila","family":"Youssefian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tina","family":"Shirzad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shadab","family":"Salehpour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sirous","family":"Zeinali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref21","first-page":"975","article-title":"Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease","volume":"26","year":"2013","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref271","first-page":"673","article-title":"A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)","volume":"28","year":"2015","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref301","first-page":"662","article-title":"Allelic heterogeneity in inbred populations: the Saudi experience with Alstr\u00f6m syndrome as an illustrative example","volume":"149","year":"2009","journal-title":"Am J Med Genet A"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1002\/humu.1380060308","article-title":"Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity","volume":"6","year":"1995","journal-title":"Hum Mutat"},{"key":"ref311","first-page":"1076","volume-title":"The genetic basis of common diseases","year":"2002"},{"key":"ref351","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1111\/exd.12620","article-title":"Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c. 507delT mutation in ECM1","volume":"24","year":"2015","journal-title":"Exp Dermatol"},{"key":"ref111","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","year":"2009","journal-title":"Nat Protoc"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1080\/03014460310001652211","article-title":"Consanguineous marriage in Iran","volume":"31","year":"2004","journal-title":"Ann Hum Biol"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","year":"2010","journal-title":"Nat Methods"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1186\/1471-2105-11-548","article-title":"Protein structure analysis of mutations causing inheritable diseases. 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