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

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases

(2019) Roland Posset et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2019) Corinna Buerger et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

(2018) Susan E. Waisbren 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

Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase

(2018) Matthias Zielonka et al.   PLoS One

A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

(2017) Sandesh C S Nagamani et al.   GENETICS IN MEDICINE

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

(2017) Julien Baruteau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2 months to 2 years

(2017) Susan A. Berry et al.   MOLECULAR GENETICS AND METABOLISM

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

(2017) Susanne Nettesheim et al.   Orphanet Journal of Rare Diseases

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

(2017) Jun Kido et al.   PEDIATRIC TRANSPLANTATION

Model-Based Recursive Partitioning for Subgroup Analyses

(2016) Heidi Seibold et al.  

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

Least-Squares Means: TheRPackagelsmeans

(2016) Russell V. Lenth   Journal of Statistical Software

Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study

(2016) Marie-Caroline Husson et al.   Orphanet Journal of Rare Diseases

Model-Based Recursive Partitioning for Subgroup Analyses

(2016) Heidi Seibold et al.   International Journal of Biostatistics

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

Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood

(2014) Clara D. van Karnebeek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases

(2014) Marshall L. Summar et al.   MOLECULAR GENETICS AND METABOLISM

Insights into RNA Biology from an Atlas of Mammalian mRNA-Binding Proteins

(2012) Alfredo Castello et al.   CELL

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

(2012) George A. Diaz et al.   HEPATOLOGY

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

Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ

(2012) Nicholas Ah Mew et al.   JOURNAL OF PEDIATRICS

Suggested guidelines for the diagnosis and management of urea cycle disorders

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

Argininosuccinate lyase deficiency-Argininosuccinic aciduria and beyond

(2011) Ayelet Erez et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

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

Requirement of argininosuccinate lyase for systemic nitric oxide production

(2011) Ayelet Erez et al.   NATURE MEDICINE

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

(2011) Martin Lindner et al.   Orphanet Journal of Rare Diseases

Nitrogen sparing therapy revisited 2009

(2010) Gregory M. Enns   MOLECULAR GENETICS AND METABOLISM

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

(2010) S. Mercimek-Mahmutoglu et al.   MOLECULAR GENETICS AND METABOLISM

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

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

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

Model-Based Recursive Partitioning

(2008) Achim Zeileis et al.   JOURNAL OF COMPUTATIONAL AND GRAPHICAL STATISTICS