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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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2024-11-01
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| coleção: | JIMD Reports |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/jmd2.12449 |
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