Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

(2014) Catia Cavicchi et al.   Orphanet Journal of Rare Diseases

Diagnosis and treatment of urea cycle disorder in Japan

(2014) Kimitoshi Nakamura et al.   PEDIATRICS INTERNATIONAL

Suggested guidelines for the diagnosis and management of urea cycle disorders

(2012) Johannes Häberle et al.   Orphanet Journal of Rare Diseases

Long-term outcome and intervention of urea cycle disorders in Japan

(2011) Jun Kido et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Paediatric liver transplantation for metabolic disorders. Part 1: Liver-based metabolic disorders without liver lesions

(2011) Ahmed A. Darwish et al.   Clinics and Research in Hepatology and Gastroenterology

Paediatric liver transplantation for metabolic disorders. Part 2: Metabolic disorders with liver lesions

(2011) Ahmed A. Darwish et al.   Clinics and Research in Hepatology and Gastroenterology

Hepatocyte Transplantation Followed by Auxiliary Liver Transplantation-a Novel Treatment for Ornithine Transcarbamylase Deficiency

(2010) J. Puppi et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene

(2009) R Quental et al.   CLINICAL GENETICS

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

(2009) Oleg A. Shchelochkov et al.   MOLECULAR GENETICS AND METABOLISM

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency

(2009) S. Balasubramaniam et al.   MOLECULAR GENETICS AND METABOLISM

Hereditary urea cycle diseases in Finland

(2008) Päivi Keskinen et al.   ACTA PAEDIATRICA

Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes

(2008) Marshall L Summar et al.   ACTA PAEDIATRICA

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

(2008) S. Scholl-Bürgi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

(2008) Mendel Tuchman et al.   MOLECULAR GENETICS AND METABOLISM