Contiguous Xp11.4 Gene Deletion Leading to Ornithine Transcarbamylase Deficiency Detected by High-density Single-nucleotide Array

Ornithine transcarbamylase (OTC) is one of the enzymes involved in the urea cycle. OTC deficiency, which is caused by impaired synthesis of OTC in the liver, is the most common inherited disease of urea cycle disorders. In this paper, we describe the case of an OTC-deficient Japanese boy wherein an...

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Detalles Bibliográficos
Autores principales: Ono, Mizuho, Tsuda, Junnosuke, Mouri, Yoko, Arai, Junichi, Arinami, Tadao, Noguchi, Emiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687618/
https://www.ncbi.nlm.nih.gov/pubmed/23926375
http://dx.doi.org/10.1297/cpe.19.25

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