Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

(2018) Susan E. Waisbren et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium

(2016) Susan E. Waisbren et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency

(2014) Courtney Sprouse et al.   MOLECULAR GENETICS AND METABOLISM

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

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

The incidence of urea cycle disorders

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

Executive Functions

(2012) Adele Diamond   Annual Review of Psychology

An unusual cause of hyperammonemia in a critically ill patient

(2012) Alexandre Brasseur et al.   INTENSIVE CARE MEDICINE

Urea cycle defects and hyperammonemia: effects on functional imaging

(2012) Andrea L. Gropman et al.   METABOLIC BRAIN DISEASE

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

(2012) Clara D.M. van Karnebeek et al.   MOLECULAR GENETICS AND METABOLISM

Suggested guidelines for the diagnosis and management of urea cycle disorders

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

Intelligence

(2011) Ian J. Deary   Annual Review of Psychology

Diffusion Tensor Imaging Detects Areas of Abnormal White Matter Microstructure in Patients with Partial Ornithine Transcarbamylase Deficiency

(2010) A.L. Gropman et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Visual-motor, visual-perceptual, and fine motor outcomes in very-low-birthweight children at 5 years

(2010) Traci-Anne Goyen et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

(2010) Jennifer Seminara et al.   MOLECULAR GENETICS AND METABOLISM

NEPSY-II: A Developmental Neuropsychological Assessment, Second Edition

(2009) Brian L. Brooks et al.   CHILD NEUROPSYCHOLOGY

Intellectual, Adaptive, and Behavioral Functioning in Children With Urea Cycle Disorders

(2009) Lauren Krivitzky et al.   PEDIATRIC RESEARCH

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

1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency

(2008) A.L. Gropman et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Neurologic Damage and Neurocognitive Dysfunction in Urea Cycle Disorders

(2008) Gregory M. Enns   Seminars in Pediatric Neurology