Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over...

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Detalles Bibliográficos
Autores principales: Thompson, Susan, Hertzog, Ashley, Selvanathan, Arthavan, Batten, Kiera, Lewis, Katherine, Nisbet, Janelle, Mitchell, Ashleigh, Dalkeith, Troy, Billmore, Kate, Moore, Francesca, Tolun, Adviye Ayper, Devanapalli, Beena, Bratkovic, Drago, Hilditch, Cathie, Rahman, Yusof, Tchan, Michel, Bhattacharya, Kaustuv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9920477/
https://www.ncbi.nlm.nih.gov/pubmed/36771238
http://dx.doi.org/10.3390/nu15030531

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9920477/
https://www.ncbi.nlm.nih.gov/pubmed/36771238
http://dx.doi.org/10.3390/nu15030531

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