{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T23:57:17Z","timestamp":1760745437367,"version":"3.40.5"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,3,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0194_s_999_w2aab3b7c13b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Peroxisomal biogenesis disorders (PBDs) include a miscellaneous group of diseases which cause serious multisystem disease. Mutations of 13 different <jats:italic>PEX<\/jats:italic> genes lead to PBDs including Zellweger syndrome (ZS). Different types of mutations of <jats:italic>PEX1<\/jats:italic> and <jats:italic>PEX10<\/jats:italic> genes are correlated with broad-range phenotypes of PBDs.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0194_s_998_w2aab3b7c13b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>Patient 1 is a 4-month-old boy who was affected by myoclonic seizures, poor oral feeding since birth. The patient was hypotonic and had hepatosplenomegaly. Patient 2 is a 2-month-old boy who presented with decreased movement, severe hypotonia and failure to thrive. The laboratory studies of the patients revealed increased plasma very-long-chain fatty acids (VLCFAs). The genetic analyses of patient 1 demonstrated the first homozygous missense mutation in the <jats:italic>PEX10<\/jats:italic> gene. A novel homozygous missense mutation was found in the <jats:italic>PEX1<\/jats:italic> gene in patient 2.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0194_s_997_w2aab3b7c13b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This report highlights that the detected homozygous missense mutations of <jats:italic>PEX10<\/jats:italic> and <jats:italic>PEX1<\/jats:italic> genes and the substitutions of specific amino acids lead to the severe form of PBDs.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0194","type":"journal-article","created":{"date-parts":[[2020,2,18]],"date-time":"2020-02-18T09:03:21Z","timestamp":1582016601000},"page":"437-441","source":"Crossref","is-referenced-by-count":5,"title":["Two different missense mutations of <i>PEX<\/i> genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation"],"prefix":"10.1515","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6275-0884","authenticated-orcid":false,"given":"Cengiz","family":"Havali","sequence":"first","affiliation":[{"name":"Bursa Yuksek \u0130htisas Training and Research Hospital, Department of Pediatrics, Division of Neurology , Y\u0131ld\u0131r\u0131m\/Bursa 16310 , Turkey"},{"name":"Department of Pediatrics, Division of Neurology, Bursa Yuksek \u0130htisas Training and Research Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sevil","family":"Dorum","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Metabolic Disorders, Bursa Yuksek \u0130htisas Training and Research Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y\u0131lmaz","family":"Akba\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology , Gazi University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orhan","family":"G\u00f6r\u00fckmez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Bursa Yuksek \u0130htisas Training and Research Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tugba","family":"Hirfanoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology , Gazi University Faculty of Medicine , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,2,17]]},"reference":[{"key":"2023040101053368158_j_jpem-2019-0194_ref_001_w2aab3b7c13b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Singh I, Moser AE, Goldfischer S, Moser HW. Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy. Proc Natl Acad Sci U S A 1984;81:4203\u20137.","DOI":"10.1073\/pnas.81.13.4203"},{"key":"2023040101053368158_j_jpem-2019-0194_ref_002_w2aab3b7c13b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, et al. Peroxisome biogenesis disorders. Biochim Biophys Acta 2006;1763:1733\u201348.","DOI":"10.1016\/j.bbamcr.2006.09.010"},{"key":"2023040101053368158_j_jpem-2019-0194_ref_003_w2aab3b7c13b1b6b1ab2b2b3Aa","doi-asserted-by":"crossref","unstructured":"Shimozawa N. Molecular and clinical aspects of peroxisomal diseases. J Inherit Metab Dis 2007;30:193\u20137.","DOI":"10.1007\/s10545-007-0516-z"},{"key":"2023040101053368158_j_jpem-2019-0194_ref_004_w2aab3b7c13b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Percy AK, Rutledge SL. Adrenoleukodystrophy and related disorders. 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