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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Detalles Bibliográficos
Autores principales: Grünert, Sarah C., Sass, Jörn Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7023732/
https://www.ncbi.nlm.nih.gov/pubmed/32059735
http://dx.doi.org/10.1186/s13023-020-1319-7

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