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

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

(2015) Dagmar Jamiolkowski et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

(2015) Diego Martinelli et al.   Orphanet Journal of Rare Diseases

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

(2015) Anais Brassier et al.   Orphanet Journal of Rare Diseases

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

(2014) Sven F. Garbade et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A longitudinal study of urea cycle disorders

(2014) Mark L. Batshaw et al.   MOLECULAR GENETICS AND METABOLISM

Glycerol phenylbutyrate treatment in children with urea cycle disorders: Pooled analysis of short and long-term ammonia control and outcomes

(2014) Susan A. Berry et al.   MOLECULAR GENETICS AND METABOLISM

Short-term survival of hyperammonemic neonates treated with dialysis

(2014) Stefano Picca et al.   PEDIATRIC NEPHROLOGY

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

(2013) Corinne M. Rüegger et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Dietary management of urea cycle disorders: European practice

(2013) S. Adam et al.   MOLECULAR GENETICS AND METABOLISM

The incidence of urea cycle disorders

(2013) Marshall L. Summar et al.   MOLECULAR GENETICS AND METABOLISM

Liver Transplantation Versus Conservative Treatment for Adult-Onset Type II Citrullinemia: Our Experience and a Review of the Literature

(2013) N. Kimura et al.   TRANSPLANTATION PROCEEDINGS

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow-up and quality assurance

(2012) Peter Burgard et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 - From blood spot to screening result

(2012) J. Gerard Loeber et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Suggested guidelines for the diagnosis and management of urea cycle disorders

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

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

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

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

Diagnosis and management of glutaric aciduria type I – revised recommendations

(2011) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Use of guidelines improves the neurological outcome in glutaric aciduria type I

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY

Current and Emerging Strategies for Treating Hepatic Encephalopathy

(2010) Keith J. Foster et al.   Critical Care Nursing Clinics of North America

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