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

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

(2012) Katharina Danhauser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers

(2012) Olivier Braissant   JOURNAL OF INHERITED METABOLIC DISEASE

Progress in understanding 2-hydroxyglutaric acidurias

(2012) Martijn Kranendijk et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience

(2012) Stefan Kölker et al.   MOLECULAR GENETICS AND METABOLISM

Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)

(2012) Randy J. Chandler 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

Propionic acidemia: To liver transplant or not to liver transplant?

(2012) Kimberly A. Chapman et al.   PEDIATRIC TRANSPLANTATION

Neurocognitive Phenotype of Isolated Methylmalonic Acidemia

(2012) C. J. O'Shea et al.   PEDIATRICS

Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of α-Ketoglutarate-Dependent Dioxygenases

(2011) Wei Xu et al.   CANCER CELL

The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases

(2011) Rasheduzzaman Chowdhury et al.   EMBO REPORTS

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies

(2011) Moacir Wajner et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

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

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

Sweet Sixteen for ANLS

(2011) Luc Pellerin et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

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

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

(2011) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

A safety trial of high dose glyceryl triacetate for Canavan disease

(2011) Reeval Segel et al.   MOLECULAR GENETICS AND METABOLISM

Chronic management and health supervision of individuals with propionic acidemia

(2011) V. Reid Sutton et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of propionic acidemia

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

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation

(2011) James E Davison et al.   Orphanet Journal of Rare Diseases

Living-donor liver transplantation for propionic acidemia

(2011) Mureo Kasahara et al.   PEDIATRIC TRANSPLANTATION

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

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

(2010) Sven W. Sauer et al.   BRAIN

Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?

(2010) Jean-Pierre Bayley et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

(2010) Marjan E. Steenweg et al.   HUMAN MUTATION

Isocitrate Dehydrogenase 1 and 2 Mutations in Cancer: Alterations at a Crossroads of Cellular Metabolism

(2010) Z. J. Reitman et al.   JNCI-Journal of the National Cancer Institute

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

(2010) M. Kranendijk et al.   SCIENCE

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

SDH5 Mutations and Familial Paraganglioma: Somewhere Warburg is Smiling

(2009) William G. Kaelin   CANCER CELL

Dynamic organization of mitochondria in human heart and in myocardial disease

(2009) Charles L. Hoppel et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

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

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

Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias

(2009) S. W. Sauer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

(2009) Stéphane Romano et al.   JOURNAL OF PEDIATRICS

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

(2009) Lenny Dang et al.   NATURE

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

l-2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients

(2009) Marjan E. Steenweg et al.   RADIOLOGY

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism

(2008) Sven Wolfgang Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group

(2008) Eric H. Kossoff et al.   EPILEPSIA

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

Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria

(2008) M.A. Cosson et al.   MOLECULAR GENETICS AND METABOLISM