Novel MTTP 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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Detalles Bibliográficos
Autores principales: Soylu Ustkoyuncu, Pembe, Gokay, Songül, Eren, Esra, Dogan, Durmus, Yıldız, Gokce, Yılmaz, Aysegul, Mutlu, Fatma Turkan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711635/
https://www.ncbi.nlm.nih.gov/pubmed/31914726
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0144

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711635/
https://www.ncbi.nlm.nih.gov/pubmed/31914726
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0144

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