A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure

SLC44A1 gene variants (MIM # 618868) are associated with a choline transporter deficiency with a rare autosomal recessive genetic disorder characterized by neurodegeneration, childhood-onset with ataxia, tremor, optic atrophy, and cognitive decline. Variants in the SLC44A1 gene are considered to be...

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Vydané v:	Molecular genetics and metabolism reports Ročník 43; s. 101204
Hlavní autori:	Barut, Dogan, Dörtkardeşler, Emine Burçe, Karakoyun, Miray, Canda, Ebru, Onay, Huseyin, Aydogdu, Sema
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States Elsevier Inc 01.06.2025 Elsevier
Predmet:	Choline transporter deficiency Liver failure Neonatal cholestasis Neonatal cholestasis Choline transporter deficiency Liver failure
ISSN:	2214-4269, 2214-4269
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