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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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Bibliographic Details
Main Authors: 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
Language:Inglês
Published: 2005
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Online Access: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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