The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

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

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

Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1

(2013) Bastian Thies et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

(2013) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Histopathological findings in livers of patients with urea cycle disorders

(2013) Joy Yaplito-Lee et al.   MOLECULAR GENETICS AND METABOLISM

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

(2013) M. Herskovitz et al.   NEUROLOGY

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

(2013) Sarah C Grünert et al.   Orphanet Journal of Rare Diseases

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

(2013) Mathilde Nizon et al.   Orphanet Journal of Rare Diseases

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

(2012) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ammonia toxicity to the brain

(2012) Olivier Braissant 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

Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I

(2012) Saumya S. Jamuar 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

Clinical Reasoning: A young man with progressive subcortical lesions and optic nerve atrophy

(2012) S. Komatsuzaki et al.   NEUROLOGY

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

(2012) Sarah C Grünert et al.   Orphanet Journal of Rare Diseases

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

(2011) Jessica Lamp et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diagnosis and management of glutaric aciduria type I – revised recommendations

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

Subacute Bilateral Visual Loss in Methylmalonic Acidemia

(2011) Ghislaine Traber et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Cardiac Disease in Methylmalonic Acidemia

(2011) Carlos E. Prada et al.   JOURNAL OF PEDIATRICS

Acute management of propionic acidemia

(2011) Kimberly A. Chapman et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of propionic acidemia

(2011) Loren Pena et al.   MOLECULAR GENETICS AND METABOLISM

Requirement of argininosuccinate lyase for systemic nitric oxide production

(2011) Ayelet Erez et al.   NATURE MEDICINE

Revised birth centiles for weight, length and head circumference in the UK-WHO growth charts

(2010) Tim J. Cole et al.   ANNALS OF HUMAN BIOLOGY

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

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY

Glutaric aciduria type I and methylmalonic aciduria: Simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood–brain barrier and the choroid plexus

(2010) Sven W. Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Chronic pancreatitis in branched-chain organic acidurias—a case of methylmalonic aciduria and an overview of the literature

(2010) Jan Marquard et al.   EUROPEAN JOURNAL OF PEDIATRICS

Brain imaging in urea cycle disorders

(2010) Andrea Gropman   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

Late Onset Optic Neuropathy in Methylmalonic and Propionic Acidemia

(2009) Zoë R. Williams et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency

(2009) Kevin A. Strauss et al.   BRAIN

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I

(2009) Inga Harting et al.   BRAIN

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

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

Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters

(2009) F. Hörster et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

(2009) Stéphane Romano et al.   JOURNAL OF PEDIATRICS

Long-term outcome in methylmalonic aciduria: A series of 30 French patients

(2009) M.A. Cosson et al.   MOLECULAR GENETICS AND METABOLISM

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

(2009) Yves de Keyzer et al.   PEDIATRIC RESEARCH

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

Mitochondrial dysfunction in mut methylmalonic acidemia

(2008) Randy J. Chandler et al.   FASEB JOURNAL

Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake

(2008) S. R. Mirandola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Hereditary and acquired diseases of acyl-coenzyme A metabolism

(2008) Grant A Mitchell 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

Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients

(2008) Cyril Gitiaux et al.   MOVEMENT DISORDERS

Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias

(2008) Yohannes Hagos et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY