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...

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Autors principals: 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
Idioma:Inglês
Publicat: 2005
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Article
Accés en línia: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
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