Asymptomatic pediatric presentation of S‐adenosylhomocysteine hydrolase deficiency
Abstract S‐adenosylhomocysteine hydrolase deficiency is an autosomal recessive inborn error of metabolism affecting methylation by disrupting the methionine cycle. Its clinical spectrum spans from severe perinatal encephalomyopathy and liver failure to asymptomatic course in patients with isolated h...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wiley
2024-11-01
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| Col·lecció: | JIMD Reports |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1002/jmd2.12449 |
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