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Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center
3-Hydroxy-3-methylglutaryl-coenzyme-A lyase (HMGCL) deficiency, a rare autosomal recessive disorder, is caused by a homozygous or compound heterozygous mutation in the HMGCL gene (chromosome 1p36.11). HMGCL catalyzes the final step of leucine degradation and plays a key role in ketone body formation...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2021
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8110366/ https://ncbi.nlm.nih.gov/pubmed/33996180 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0040-1714698 |
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