S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy

S-Adenosylhomocysteine (AdoHcy) hydrolase deficiency has been proven in a human only once, in a recently described Croatian boy. Here we report the clinical course and biochemical abnormalities of the younger brother of this proband. This younger brother has the same two mutations in the gene encodi...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Barić, I., Ćuk, M., Fumić, K., Vugrek, O., Allen, R. H., Glenn, B., Maradin, M., Pažanin, L., Pogribny, I., Radoš, M., Sarnavka, V., Schulze, A., Stabler, S., Wagner, C., Zeisel, S. H., Mudd, S. H.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2005
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2441944/
https://ncbi.nlm.nih.gov/pubmed/16435181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-005-0192-9
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge