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

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

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

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

(2016) Caroline Unsinn et al.   Orphanet Journal of Rare Diseases

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

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

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

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

Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency

(2014) Renata C. Gallagher et al.   JOURNAL OF PEDIATRICS

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

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

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

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

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

Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects

(2010) Jochen Meyburg et al.   MOLECULAR GENETICS AND METABOLISM

Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening

(2009) C. Ficicioglu et al.   MOLECULAR GENETICS AND METABOLISM

One Liver for Four Children: First Clinical Series of Liver Cell Transplantation for Severe Neonatal Urea Cycle Defects

(2009) Jochen Meyburg et al.   TRANSPLANTATION

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

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

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