Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan

Long‐term outcome of urea cycle disorders: Report from a nationwide study in Japan

(2021) Jun Kido et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

(2021) Jun Kido et al.   Molecular Genetics and Metabolism Reports

Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism. An overview on European data

(2020) Femke Molema et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Living related Liver Transplantation for Metabolic Liver Diseases in Children

(2020) Vikrant Sood et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders

(2019) Roland Posset et al.   ANNALS OF NEUROLOGY

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

(2019) Johannes Häberle et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

(2018) Sandra Sirrs et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Early liver transplantation in neonatal-onset and moderate urea cycle disorders may lead to normal neurodevelopment

(2018) Jun Kido et al.   METABOLIC BRAIN DISEASE

Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening

(2018) J. Lawrence Merritt et al.   MOLECULAR GENETICS AND METABOLISM

Liver transplantation for neonatal-onset citrullinemia

(2018) Roshni Vara et al.   PEDIATRIC TRANSPLANTATION

Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders

(2017) Jun Kido et al.   PEDIATRIC TRANSPLANTATION

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

(2016) Roland Posset et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors

(2016) Tri Hening Rahayatri et al.   PEDIATRIC TRANSPLANTATION

Citrulline for urea cycle disorders in Japan

(2016) Kenichi Tanaka et al.   PEDIATRICS INTERNATIONAL

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years

(2015) Peter Burgard et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Liver Transplantation for Urea Cycle Disorders: Analysis of the United Network for Organ Sharing Database

(2015) L. Yu et al.   TRANSPLANTATION PROCEEDINGS

Living donor liver transplantation for pediatric patients with metabolic disorders: The Japanese multicenter registry

(2013) Mureo Kasahara et al.   PEDIATRIC TRANSPLANTATION

Suggested guidelines for the diagnosis and management of urea cycle disorders

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

Ornithine transcarbamylase deficiency: Are carrier females suitable donors?

(2012) Derek A. Wong   PEDIATRIC TRANSPLANTATION

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

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

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

Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency

(2008) Ogee Mer Panlaqui et al.   INTENSIVE CARE MEDICINE

Medical Management and Dialysis Therapy for the Infant With an Inborn Error of Metabolism

(2008) Stefano Picca et al.   SEMINARS IN NEPHROLOGY