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

Mutations and common variants in the human arginase 1 (ARG1 ) gene: Impact on patients, diagnostics, and protein structure considerations

(2018) Carmen Diez-Fernandez et al.   HUMAN MUTATION

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders

(2018) Nina Hediger et al.   JOURNAL OF INHERITED METABOLIC 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

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

(2018) Monique Williams et al.   Scientific Reports

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders

(2017) Jochen Meyburg et al.   JOURNAL OF INHERITED METABOLIC DISEASE

AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice

(2017) Lili Wang 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

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

(2016) Enea Sancho-Vaello et al.   HUMAN MUTATION

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

(2016) Martina Huemer 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

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

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

(2016) Alexander Laemmle et al.   PLoS One

Recent advances in the treatment of hyperammonemia

(2015) Simon Matoori et al.   ADVANCED DRUG DELIVERY REVIEWS

Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature

(2015) A. Schlune et al.   AMINO ACIDS

Modeling correction of severe urea cycle defects in the growing murine liver using a hybrid recombinant adeno-associated virus/piggyBactransposase gene delivery system

(2015) Sharon C. Cunningham et al.   HEPATOLOGY

Genotype–Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update

(2015) Ljubica Caldovic et al.   Journal of Genetics and Genomics

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

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria

(2015) Liyan Hu 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

Hyperammonemia in Distal Renal Tubular Acidosis: A New Case and Review of the Literature

(2015) Kai-Hsiang Hsu et al.   Pediatrics and Neonatology

Hyperammonemia in Urinary Tract Infections

(2015) Tsuneaki Kenzaka et al.   PLoS One

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

(2015) L. Yu et al.   TRANSPLANTATION PROCEEDINGS

Structure of human carbamoyl phosphate synthetase: deciphering the on/off switch of human ureagenesis

(2015) Sergio de Cima et al.   Scientific Reports

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

Recurrent Encephalopathy: NAGS (N-Acetylglutamate Synthase) Deficiency in Adults

(2014) A. Cartagena et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

(2014) Brendan Lee et al.   GENETICS IN MEDICINE

Treating inborn errors of liver metabolism with stem cells: current clinical development

(2014) Etienne Marc Sokal   JOURNAL OF INHERITED METABOLIC DISEASE

Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency

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

Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl-l-glutamate

(2014) Nicholas Ah Mew et al.   JOURNAL OF PEDIATRICS

Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders

(2014) Lindsay C. Burrage et al.   MOLECULAR GENETICS AND METABOLISM

Improved standards for prenatal diagnosis of citrullinemia

(2014) Marcus J. Miller 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

Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening

(2014) M. Barends et al.   MOLECULAR GENETICS AND METABOLISM

Dietary protein in urea cycle defects: How much? Which? How?

(2014) Avihu Boneh   MOLECULAR GENETICS AND METABOLISM

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

(2014) Catia Cavicchi et al.   Orphanet Journal of Rare Diseases

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

(2014) Nina A Zeltner et al.   Orphanet Journal of Rare Diseases

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

(2014) Elena Martín-Hernández et al.   Orphanet Journal of Rare Diseases

Diagnosis and treatment of urea cycle disorder in Japan

(2014) Kimitoshi Nakamura et al.   PEDIATRICS INTERNATIONAL

Results from a Nationwide Cohort Temporary Utilization Authorization (ATU) Survey of Patients in France Treated with Pheburane® (Sodium Phenylbutyrate) Taste-Masked Granules

(2014) Yves Kibleur et al.   PEDIATRIC DRUGS

Clinical and biochemical aspects of primary and secondary hyperammonemic disorders

(2013) Johannes Häberle   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse

(2013) E K Lee et al.   GENE THERAPY

Argininosuccinic aciduria: from a monogenic to a complex disorder

(2013) Ayelet Erez   GENETICS IN MEDICINE

Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study

(2013) Alexandre Fabre et al.   Health and Quality of Life Outcomes

Vector Sequences Are Not Detected in Tumor Tissue from Research Subjects with Ornithine Transcarbamylase Deficiency Who Previously Received Adenovirus Gene Transfer

(2013) Li Zhong et al.   HUMAN GENE THERAPY

Molecular Characterization of Carbamoyl-Phosphate Synthetase (CPS1) Deficiency Using Human Recombinant CPS1 as a Key Tool

(2013) Carmen Diez-Fernandez et al.   HUMAN MUTATION

Mutations and Polymorphisms in the HumanArgininosuccinate Lyase(ASL) Gene

(2013) Cécile Balmer et al.   HUMAN MUTATION

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

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

Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate

(2013) Wendy Smith et al.   JOURNAL OF PEDIATRICS

Pediatric liver transplantation for urea cycle disorders and organic acidemias: United Network for Organ Sharing data for 2002-2012

(2013) Emily R. Perito et al.   LIVER TRANSPLANTATION

Dietary management of urea cycle disorders: European practice

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

Development of clinical guidelines for inborn errors of metabolism: Commentary

(2013) Jerry Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias

(2013) Uta Lichter-Konecki et al.   MOLECULAR GENETICS AND METABOLISM

Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse

(2013) Jennifer Kasten et al.   MOLECULAR GENETICS AND METABOLISM

Improving surveillance for hyperammonemia in the newborn

(2013) Samantha A. Vergano et al.   MOLECULAR GENETICS AND METABOLISM

Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio

(2013) M. Mokhtarani et al.   MOLECULAR GENETICS AND METABOLISM

The incidence of urea cycle disorders

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

Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism

(2013) I-Jung Tsai et al.   PEDIATRIC NEPHROLOGY

High-dose continuous renal replacement therapy for neonatal hyperammonemia

(2013) Joann M. Spinale et al.   PEDIATRIC NEPHROLOGY

Liver transplantation for urea cycle disorders in pediatric patients: A single-center experience

(2013) Irene K. Kim et al.   PEDIATRIC TRANSPLANTATION

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

(2013) Mureo Kasahara et al.   PEDIATRIC TRANSPLANTATION

Inducible Arginase 1 Deficiency in Mice Leads to Hyperargininemia and Altered Amino Acid Metabolism

(2013) Yuan Yan Sin et al.   PLoS One

Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

(2012) Sandesh C.S. Nagamani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Developing a new formulation of sodium phenylbutyrate

(2012) Nathalie Guffon et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Long-term follow-up of four patients affected by HHH syndrome

(2012) Sook Z. Kim et al.   CLINICA CHIMICA ACTA

Recurrent unexplained hyperammonemia in an adolescent with arginase deficiency

(2012) Yan Zhang et al.   CLINICAL BIOCHEMISTRY

Argininosuccinate lyase deficiency

(2012) Sandesh C.S. Nagamani et al.   GENETICS IN MEDICINE

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

(2012) George A. Diaz et al.   HEPATOLOGY

Dietary management of urea cycle disorders: UK practice

(2012) S. Adam et al.   JOURNAL OF HUMAN NUTRITION AND DIETETICS

Creatine metabolism in urea cycle defects

(2012) Sara Boenzi 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

Recurrent pancreatitis in ornithine transcarbamylase deficiency

(2012) Carlos E. Prada et al.   MOLECULAR GENETICS AND METABOLISM

Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1

(2012) Rita Kretz et al.   MOLECULAR GENETICS AND METABOLISM

A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria

(2012) Sandesh C.S. Nagamani et al.   MOLECULAR GENETICS AND METABOLISM

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

(2012) M. Mokhtarani 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

Coagulopathy in Patients With Late-Onset Ornithine Transcarbamylase Deficiency in Remission State: A Previously Unrecognized Complication

(2012) K. Ihara et al.   PEDIATRICS

Argininosuccinate lyase deficiency-Argininosuccinic aciduria and beyond

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

Misdiagnosed Postpartum Psychosis Revealing a Late-Onset Urea Cycle Disorder

(2011) Thomas Fassier et al.   AMERICAN JOURNAL OF PSYCHIATRY

From hepatocytes to stem and progenitor cells for liver regenerative medicine: advances and clinical perspectives

(2011) E. M. Sokal   CELL PROLIFERATION

Sustained correction of OTC deficiency in spf ash mice using optimized self-complementary AAV2/8 vectors

(2011) L Wang et al.   GENE THERAPY

Altered neural activation in ornithine transcarbamylase deficiency during executive cognition: An fMRI study

(2011) Andrea L. Gropman et al.   HUMAN BRAIN MAPPING

N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy

(2011) Sandra K. Heibel et al.   HUMAN MUTATION

Peripartum management of two parturients with ornithine transcarbamylase deficiency

(2011) U. Ituk et al.   INTERNATIONAL JOURNAL OF OBSTETRIC ANESTHESIA

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria

(2011) Katharina Engel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

A series of pregnancies in women with inherited metabolic disease

(2011) Janneke G Langendonk et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

(2011) Uta Lichter-Konecki et al.   MOLECULAR GENETICS AND METABOLISM

Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

(2011) Shailly Jain-Ghai et al.   MOLECULAR GENETICS AND METABOLISM

Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome

(2011) Lili Wang et al.   MOLECULAR GENETICS AND METABOLISM

Induction and Prevention of Severe Hyperammonemia in the spfash Mouse Model of Ornithine Transcarbamylase Deficiency Using shRNA and rAAV-mediated Gene Delivery

(2011) Sharon C Cunningham et al.   MOLECULAR THERAPY

Requirement of argininosuccinate lyase for systemic nitric oxide production

(2011) Ayelet Erez et al.   NATURE MEDICINE

Urea cycle disorders: brain MRI and neurological outcome

(2011) William R. Bireley et al.   PEDIATRIC RADIOLOGY

Living donor liver transplantation for ornithine transcarbamylase deficiency

(2011) T. Wakiya et al.   PEDIATRIC TRANSPLANTATION

Vaccines Are Not Associated With Metabolic Events in Children With Urea Cycle Disorders

(2011) T. M. Morgan et al.   PEDIATRICS

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

Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes

(2010) Carlos J. Perez et al.   AMERICAN JOURNAL OF PATHOLOGY

Management of Ornithine Transcarbamylase Deficiency in Pregnancy

(2010) Hector Mendez-Figueroa et al.   AMERICAN JOURNAL OF PERINATOLOGY

Hepatocyte Transplantation Followed by Auxiliary Liver Transplantation-a Novel Treatment for Ornithine Transcarbamylase Deficiency

(2010) J. Puppi et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Clinical practice

(2010) Johannes Häberle   EUROPEAN JOURNAL OF PEDIATRICS

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

(2010) Johannes Häberle et al.   HUMAN MUTATION

Protracted Cortical Visual Loss in a Child With Ornithine Transcarbamylase Deficiency

(2010) Jennifer M Anderson et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Brain imaging in urea cycle disorders

(2010) Andrea Gropman   MOLECULAR GENETICS AND METABOLISM

Early orthotopic liver transplantation in urea cycle defects: Follow up of a developmental outcome study

(2010) Philippe M. Campeau et al.   MOLECULAR GENETICS AND METABOLISM

New insights in nutritional management and amino acid supplementation in urea cycle disorders

(2010) Fernando Scaglia   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

Creatine metabolism and the urea cycle

(2010) John T. Brosnan 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

Current concepts in the pathogenesis of urea cycle disorders

(2010) Olivier Braissant   MOLECULAR GENETICS AND METABOLISM

Molecular characterization of CPS1 deletions by array CGH

(2010) Jing Wang et al.   MOLECULAR GENETICS AND METABOLISM

Transient fulminant liver failure as an initial presentation in citrullinemia type I

(2010) Hannaneh Faghfoury et al.   MOLECULAR GENETICS AND METABOLISM

Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?

(2009) V Klaus et al.   CLINICAL GENETICS

Valproate-Induced Hyperammonemic Encephalopathy and Normal Liver Functions

(2009) Stephen I. Deutsch et al.   CLINICAL NEUROPHARMACOLOGY

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period

(2009) Johannes Häberle et al.   European Journal of Obstetrics & Gynecology and Reproductive Biology

Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism

(2009) I. Marín-Valencia et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency

(2009) Peter Gessler et al.   EUROPEAN JOURNAL OF PEDIATRICS

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

(2009) Eva Trevisson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

(2009) Mercedes Serrano et al.   JOURNAL OF CHILD NEUROLOGY

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH) Presenting With Acute Fulminant Hepatic Failure

(2009) AA Mhanni et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency

(2009) C. Cavicchi et al.   JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency?

(2009) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM

High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH

(2009) Oleg A. Shchelochkov et al.   MOLECULAR GENETICS AND METABOLISM

Outcomes beyond phenylalanine: An international perspective☆

(2009) Francois Feillet et al.   MOLECULAR GENETICS AND METABOLISM

Retinal Degeneration

(2009) Chiara Morini et al.   OPHTHALMOLOGY

N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia as Measured by Isotopic Incorporation and Blood Biomarkers

(2009) Mendel Tuchman et al.   PEDIATRIC RESEARCH

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

(2009) Lauren Krivitzky et al.   PEDIATRIC RESEARCH

Long-term outcome following pediatric liver transplantation for metabolic disorders

(2009) Terrell Stevenson et al.   PEDIATRIC TRANSPLANTATION

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

(2009) B. Wilcken et al.   PEDIATRICS

Donor Complications Associated With Living Donor Liver Transplantation in Japan

(2009) Yasuhiko Hashikura et al.   TRANSPLANTATION

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

Diseases caused by defects of mitochondrial carriers: A review

(2008) Ferdinando Palmieri   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Investigation of citrullinemia type I variants by in vitro expression studies

(2008) Christoph Berning et al.   HUMAN MUTATION

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene

(2008) Katharina Engel et al.   HUMAN MUTATION

Interpretation of plasma amino acids in the follow-up of patients: The impact of compartmentation

(2008) Claude Bachmann   JOURNAL OF INHERITED METABOLIC DISEASE

Liver cell transplantation for the treatment of inborn errors of metabolism

(2008) J. Meyburg et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

(2008) S. Scholl-Bürgi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Contrasting features of urea cycle disorders in human patients and knockout mouse models

(2008) Joshua L. Deignan et al.   MOLECULAR GENETICS AND METABOLISM

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

(2008) Katharina Engel et al.   MOLECULAR GENETICS AND METABOLISM

Cell-based therapies for metabolic liver disease

(2008) Gregory M. Enns 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

Hidden Consequences of Success in Pediatrics: Parental Health-Related Quality of Life--Results From the Care Project

(2008) J. Hatzmann et al.   PEDIATRICS

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

(2008) Stefano Picca et al.   SEMINARS IN NEPHROLOGY

Neurologic Damage and Neurocognitive Dysfunction in Urea Cycle Disorders

(2008) Gregory M. Enns   Seminars in Pediatric Neurology

Hyperornithinemia–hyperammonemia–homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis

(2007) Zuhair N. Al-Hassnan et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES