Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency is an autosomal recessive disorder affecting the leucine catabolic pathway and ketone body synthesis, and is clinically characterized by metabolic crises with hypoketotic hypoglycemia, metabolic acidosis and hyperammonemia. In the...

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Detalles Bibliográficos
Autores principales: AOYAMA, YUKA, YAMAMOTO, TOSHIYUKI, SAKAGUCHI, NAOMI, ISHIGE, MIKA, TANAKA, TOJU, ICHIHARA, TOMOKO, OHARA, KATSUAKI, KOUZAN, HIROKO, KINOSADA, YASUTOMI, FUKAO, TOSHIYUKI
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432928/
https://www.ncbi.nlm.nih.gov/pubmed/25872961
http://dx.doi.org/10.3892/ijmm.2015.2184

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432928/
https://www.ncbi.nlm.nih.gov/pubmed/25872961
http://dx.doi.org/10.3892/ijmm.2015.2184

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