Neonatal cholestasis: an uncommon presentation of hyperargininemia.

Gomes Martins, Esmeralda

Neonatal cholestasis: an uncommon presentation of hyperargininemia. [electronic resource] - Journal of inherited metabolic disease Dec 2010 - S503-6 p. digital

Publication Type: Case Reports; Journal Article

1573-2665

10.1007/s10545-010-9263-7 doi


Amino Acids, Essential--therapeutic use
Arginase--genetics
Arginine--blood
Biomarkers--blood
Child
Child Development
Child, Preschool
Cholestasis--diagnosis
Diet, Protein-Restricted
Disease Progression
End Stage Liver Disease--etiology
Female
Genetic Predisposition to Disease
Humans
Hyperargininemia--complications
Hypertension, Portal--etiology
Infant
Infant, Newborn
Liver Cirrhosis, Biliary--etiology
Liver Transplantation
Neonatal Screening
Phenotype
Treatment Outcome