Associated Papers
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S2.pdf
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
33551825 (PubMed )
Supplement: Data_Sheet_1.zip › SupplementaryData_DataSheet › Supplementary_Tables_S1-S6.xlsx › Table_S4
Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene.
Ali EZ et al.
Biomed Research International, 2018
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Hyperammonemia-induced encephalopathy due to ornithine transcarbamylase deficiency in an adult woman: identification of novel missense mutations.
Tanaka A et al.
Journal of Gastroenterology, 2005
Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency.
Kurihara A et al.
Brain & Development, 2003
Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency.
Takanashi J et al.
Neurology, 2002
Repeated management of a woman with ornithine transcarbamylase deficiency in two pregnancies.
Suzuki T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
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