The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency
S-Adenosylhomocysteine (SAH) hydrolase deficiency is an autosomal recessive disorder in methionine metabolism caused by pathogenic variants in the gene AHCY. To date, only 15 patients with this disorder have been reported, including several patients treated with dietary management. In this study, we...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-09-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426922000453 |