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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
BACKGROUND: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL. METHOD: We performed a systematic literature search to identify all published cases. Two hundred eleven patients of whom re...
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| Publicado en: | Orphanet J Rare Dis |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BioMed Central
2020
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7023732/ https://ncbi.nlm.nih.gov/pubmed/32059735 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-1319-7 |
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