Direkt zum Inhalt

Owner only: item control page
Płatek, Teresa ; Orso, Evelyn ; Zapała, Barbara ; Polus, Anna ; Kieć-Wilk, Beata ; Piwowar, Monika ; Chojnacka, Monika ; Ciałowicz, Urszula ; Malczewska-Malec, Małgorzata ; Schmitz, Gerd ; Solnica, Bogdan ; Dembińska-Kieć, Aldona

Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy

Płatek, Teresa, Orso, Evelyn, Zapała, Barbara, Polus, Anna, Kieć-Wilk, Beata, Piwowar, Monika, Chojnacka, Monika, Ciałowicz, Urszula, Malczewska-Malec, Małgorzata, Schmitz, Gerd, Solnica, Bogdan and Dembińska-Kieć, Aldona (2018) Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy. Medicine 97 (49), e13353.

Date of publication of this fulltext: 28 Jul 2021 16:53
Article



Involved Institutions


Details

Item typeArticle
Journal or Publication TitleMedicine
Publisher:Lippincott
Place of Publication:PHILADELPHIA
Volume:97
Number of Issue or Book Chapter:49
Page Range:e13353
Date2018
InstitutionsMedicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin
Identification Number
ValueType
10.1097/MD.0000000000013353DOI
KeywordsCHAIN FATTY-ACIDS; IDENTIFICATION; BIOSYNTHESIS; FIBROBLASTS; MUTATIONS; TRANSPORT; SPECTRUM; PLASMA; STATE; ALD; ABCD1 gene; bile acids; peroxisomal beta-oxidation; X-linked adrenoleukodystrophy
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID46501

Export bibliographical data

Owner only: item control page

nach oben