Cargando…

Citrin Deficiency: Clinical and Nutritional Features

SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset type II citrullinemia (CTLN2). From childhood to adulthood, CD patients are apparently healthy due to metabolic compensation w...

Descripción completa

Detalles Bibliográficos
Autores principales: Komatsu, Michiharu, Tanaka, Naoki, Kimura, Takefumi, Yazaki, Masahide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10224054/
https://www.ncbi.nlm.nih.gov/pubmed/37242166
http://dx.doi.org/10.3390/nu15102284