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Novel <italic>MTTP</italic> Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

Abetalipoproteinaemia (ABL) is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride (TG). It results from mutations in the gene encoding microsomal TG transfer protein (MTTP). A nine-month-old girl was admitted to hospital because of f...

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Principais autores: Pembe Soylu Ustkoyuncu, Songül Gokay, Esra Eren, Durmus Dogan, Gokce Yıldız, Aysegul Yılmaz, Fatma Turkan Mutlu
Format: Artigo
Sprog:Inglês
Udgivet: Pediatric Endocrinology and Diabetes Society 2020-12-01
Serier:JCRPE
Fag:
abetalipoproteinaemia
central hypothyroidism
mttp gene
novel mutation
Online adgang: http://www.jcrpe.org/archives/archive-detail/article-preview/novel-imttp-i-gene-mutation-in-a-case-of-abetalipo/34570
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