HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is a rare inborn error of leucine degradation and ketone body synthesis, caused by homozygous or compound heterozygous disease-causing variants in HMGCL. To understand the natural history of this disease, we reviewed the biochemi...

Descripción completa

Detalles Bibliográficos
Autores principales: Alfadhel, Majid, Abadel, Basma, Almaghthawi, Hind, Umair, Muhammad, Rahbeeni, Zuhair, Faqeih, Eissa, Almannai, Mohammed, Alasmari, Ali, Saleh, Mohammed, Eyaid, Wafaa, Alfares, Ahmed, Al Mutairi, Fuad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9136170/
https://www.ncbi.nlm.nih.gov/pubmed/35646072
http://dx.doi.org/10.3389/fgene.2022.880464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9136170/
https://www.ncbi.nlm.nih.gov/pubmed/35646072
http://dx.doi.org/10.3389/fgene.2022.880464

Ejemplares similares