Neurological manifestations of organic acidurias

Newborn screening: A disease-changing intervention for glutaric aciduria type 1

(2018) Nikolas Boy et al.   ANNALS OF NEUROLOGY

Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia

(2018) Cecilie Morland et al.   BIOCHEMICAL JOURNAL

Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

(2018) Renata C Gallagher et al.   GENETICS IN MEDICINE

Organic acidurias in adults: late complications and management

(2018) Ali Tunç Tuncel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Triheptanoin protects against status epilepticus-induced hippocampal mitochondrial dysfunctions, oxidative stress and neuronal degeneration

(2018) Kah Ni Tan et al.   JOURNAL OF NEUROCHEMISTRY

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

(2018) M. Boyer et al.   MOLECULAR GENETICS AND METABOLISM

Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh−/−) Mice

(2018) Silvia Olivera-Bravo et al.   MOLECULAR NEUROBIOLOGY

Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model

(2018) Peter Bannerman et al.   MOLECULAR THERAPY

A stocked toolbox for understanding the role of astrocytes in disease

(2018) Akshata Almad et al.   Nature Reviews Neurology

Experimental Evidence that In Vivo Intracerebral Administration of L-2-Hydroxyglutaric Acid to Neonatal Rats Provokes Disruption of Redox Status and Histopathological Abnormalities in the Brain

(2018) Rafael Teixeira Ribeiro et al.   NEUROTOXICITY RESEARCH

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

(2018) Eva Richard et al.   Oxidative Medicine and Cellular Longevity

Inborn Errors of Metabolism Overview

(2018) Jean-Marie Saudubray et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Neuroimaging Findings of Organic Acidemias and Aminoacidopathies

(2018) Nihaal Reddy et al.   RADIOGRAPHICS

Oxidative damage in glutaric aciduria type I patients and the protective effects of l -carnitine treatment

(2018) Gilian Guerreiro et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria

(2018) Navid Sahebekhtiari et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I

(2017) Mayara Vendramin Pasquetti et al.   EPILEPSIA

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

(2017) Stéphanie Paquay et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Triheptanoin for the treatment of brain energy deficit: A 14-year experience

(2017) Fanny Mochel   JOURNAL OF NEUROSCIENCE RESEARCH

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency

(2017) Sarah Catharina Grünert et al.   MOLECULAR GENETICS AND METABOLISM

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

(2017) Sarah Catharina Grünert et al.   MOLECULAR GENETICS AND METABOLISM

Propionyl-CoA carboxylase – A review

(2017) Parith Wongkittichote et al.   MOLECULAR GENETICS AND METABOLISM

Toxic Synergism Between Quinolinic Acid and Glutaric Acid in Neuronal Cells Is Mediated by Oxidative Stress: Insights to a New Toxic Model

(2017) Paula Pierozan et al.   MOLECULAR NEUROBIOLOGY

Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders

(2017) Saud H. Aldubayan et al.   PEDIATRIC EMERGENCY CARE

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

(2017) Ding An et al.   Cell Reports

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

(2016) Carlo Dionisi-Vici et al.   BRAIN

Diffusion restriction in ethylmalonic encephalopathy – An imaging evidence of the pathophysiology of the disease

(2016) Maya Dattatraya Bhat et al.   BRAIN & DEVELOPMENT

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

(2016) Elena Anghileri et al.   BRAIN RESEARCH

A Next Generation Multiscale View of Inborn Errors of Metabolism

(2016) Carmen A. Argmann et al.   Cell Metabolism

“Classical organic acidurias”: diagnosis and pathogenesis

(2016) Guglielmo RD Villani et al.   CLINICAL AND EXPERIMENTAL MEDICINE

Methylmalonic and propionic acidemias

(2016) Jamie L. Fraser et al.   CURRENT OPINION IN PEDIATRICS

In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder

(2016) L. Gallego-Villar et al.   FREE RADICAL BIOLOGY AND MEDICINE

3-Hydroxy-3-methylglutaric and 3-methylglutaric acids impair redox status and energy production and transfer in rat heart: relevance for the pathophysiology of cardiac dysfunction in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

(2016) Mateus Struecker da Rosa et al.   FREE RADICAL RESEARCH

Role of medical food in MMA

(2016) Amy Cunningham et al.   GENETICS IN MEDICINE

Response to Cunningham et al.

(2016) Irini Manoli et al.   GENETICS IN MEDICINE

Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients withmutMethylmalonic Acidemia

(2016) Elizabeth A. Harrington et al.   HUMAN GENE THERAPY

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

(2016) Patrick Forny et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

(2016) María L Couce et al.   JOURNAL OF HUMAN GENETICS

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model

(2016) Fang Wang et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

(2016) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria

(2016) Alexandre Umpierrez Amaral et al.   JOURNAL OF NEUROCHEMISTRY

Suppressing N -Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy

(2016) Jiho Sohn et al.   JOURNAL OF NEUROSCIENCE

Experimental Evidence that 3-Methylglutaric Acid Disturbs Mitochondrial Function and Induced Oxidative Stress in Rat Brain Synaptosomes: New Converging Mechanisms

(2016) Ana Laura Colín-González et al.   NEUROCHEMICAL RESEARCH

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature

(2016) Steven T. Merrill et al.   Orphanet Journal of Rare Diseases

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

(2016) Majid Alfadhel et al.   Orphanet Journal of Rare Diseases

Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant

(2016) Rieko Sakamoto et al.   PEDIATRIC TRANSPLANTATION

Gliomatosis cerebri in L-2-hydroxyglutaric aciduria

(2015) Frédéric London et al.   ACTA NEUROLOGICA BELGICA

Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model

(2015) Fuzheng Guo et al.   ANNALS OF NEUROLOGY

Psychological interventions for mental health disorders in children with chronic physical illness: a systematic review

(2015) Sophie Bennett et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Disturbance of energy and redox homeostasis and reduction of Na+,K+-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats

(2015) Luciana Ritter et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload

(2015) Alexandre Umpierrez Amaral et al.   BRAIN RESEARCH

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

(2015) I. Di Meo et al.   EMBO Molecular Medicine

A role of astrocytes in mediating postnatal neurodegeneration in Glutaric acidemia-type 1

(2015) Silvia Olivera-Bravo et al.   FEBS LETTERS

In vivo intracerebral administration of L-2-hydroxyglutaric acid provokes oxidative stress and histopathological alterations in striatum and cerebellum of adolescent rats

(2015) Mateus Struecker da Rosa et al.   FREE RADICAL BIOLOGY AND MEDICINE

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

(2015) Irini Manoli et al.   GENETICS IN MEDICINE

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias

(2015) Irini Manoli et al.   GENETICS IN MEDICINE

Striatal neuronal death mediated by astrocytes from the Gcdh−/− mouse model of glutaric acidemia type I

(2015) Silvia Olivera-Bravo et al.   HUMAN MOLECULAR GENETICS

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

(2015) Inga Harting et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

(2015) Rikke K. J. Olsen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Impact of age at onset and newborn screening on outcome in organic acidurias

(2015) Jana Heringer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Liver transplantation in severe methylmalonic acidemia: The sooner, the better

(2015) Marco Spada et al.   JOURNAL OF PEDIATRICS

Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation

(2015) Anna-Kaisa Niemi et al.   JOURNAL OF PEDIATRICS

Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When?

(2015) Jennifer L. Sloan et al.   JOURNAL OF PEDIATRICS

Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology

(2015) Marília Danyelle Nunes Rodrigues et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria

(2015) Mariana dos Santos Mello et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Long-term major clinical outcomes in patients with long chain fatty acid oxidation disorders before and after transition to triheptanoin treatment—A retrospective chart review

(2015) Jerry Vockley et al.   MOLECULAR GENETICS AND METABOLISM

Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I

(2015) Bianca Seminotti et al.   MOLECULAR NEUROBIOLOGY

Toxic synergism between quinolinic acid and organic acids accumulating in glutaric acidemia type I and in disorders of propionate metabolism in rat brain synaptosomes: Relevance for metabolic acidemias

(2015) A.L. Colín-González et al.   NEUROSCIENCE

Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up

(2015) Chiara Arrizza et al.   TRANSPLANT INTERNATIONAL

A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair

(2015) Rim Rzem et al.   PLoS One

MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

(2014) E. H. Baker et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts

(2014) Lorena Gallego-Villar et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Methylmalonic aciduriacblBtype: characterization of two novel mutations and mitochondrial dysfunction studies

(2014) S. Brasil et al.   CLINICAL GENETICS

Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats

(2014) C. M. Viegas et al.   FREE RADICAL RESEARCH

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

(2014) Sven F. Garbade et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

(2014) Sowmiya Moorthie et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disturbance of the glutamatergic system by glutaric acid in striatum and cerebral cortex of glutaryl-CoA dehydrogenase-deficient knockout mice: Possible implications for the neuropathology of glutaric acidemia type I

(2014) Estela Natacha Brandt Busanello et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Acute lysine overload provokes protein oxidative damage and reduction of antioxidant defenses in the brain of infant glutaryl-CoA dehydrogenase deficient mice: A role for oxidative stress in GA I neuropathology

(2014) Bianca Seminotti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Successful reversal of propionic acidaemia associated cardiomyopathy: Evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism

(2014) J. Baruteau et al.   MITOCHONDRION

Disruption of redox homeostasis and histopathological alterations caused by in vivo intrastriatal administration of D-2-hydroxyglutaric acid to young rats

(2014) M.S. da Rosa et al.   NEUROSCIENCE

Ethylmalonic Acid Induces Permeability Transition in Isolated Brain Mitochondria

(2014) Cristiane Cecatto et al.   NEUROTOXICITY RESEARCH

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

(2014) Matthias R Baumgartner et al.   Orphanet Journal of Rare Diseases

Increased Glutamate Receptor and Transporter Expression in the Cerebral Cortex and Striatum of Gcdh-/- Mice: Possible Implications for the Neuropathology of Glutaric Acidemia Type I

(2014) Valeska Lizzi Lagranha et al.   PLoS One

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I

(2014) William J Zinnanti et al.   Acta Neuropathologica Communications

Drug treatment of inborn errors of metabolism: a systematic review

(2013) M. Alfadhel et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

(2013) Ma Luz Couce et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

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

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

Altered Sulfide (H2S) Metabolism in Ethylmalonic Encephalopathy

(2013) V. Tiranti et al.   Cold Spring Harbor Perspectives in Biology

Patients with organic acidaemias have an altered thiol status

(2012) Heli Salmi et al.   ACTA PAEDIATRICA

Survey of health status and complications among propionic acidemia patients

(2012) Loren Pena et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neurochemical Evidence that the Metabolites Accumulating in 3-Methylcrotonyl-CoA Carboxylase Deficiency Induce Oxidative Damage in Cerebral Cortex of Young Rats

(2012) Ângela Zanatta et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

(2012) Lorena Gallego-Villar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Progress in understanding 2-hydroxyglutaric acidurias

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

MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency

(2012) Michael L. O'Neill et al.   JOURNAL OF NEUROIMAGING

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

Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: A possible mechanism for brain injury in glutaric aciduria type I

(2012) Alexandre Umpierrez Amaral et al.   MOLECULAR GENETICS AND METABOLISM

Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation

(2012) Bianca Seminotti et al.   MOLECULAR GENETICS AND METABOLISM

Species Differences in the Effects of Bezafibrate as a Potential Treatment of Mitochondrial Disorders

(2011) Fatima Djouadi et al.   Cell Metabolism

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

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

(2011) Carla Giordano et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

(2011) Ina Knerr et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Chronic management and health supervision of individuals with propionic acidemia

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

Ethylmalonic acid impairs brain mitochondrial succinate and malate transport

(2011) Alexandre Umpierrez Amaral et al.   MOLECULAR GENETICS AND METABOLISM

Neurologic considerations in propionic acidemia

(2011) John Schreiber et al.   MOLECULAR GENETICS AND METABOLISM

Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening

(2011) K. Sarafoglou et al.   PEDIATRICS

Chronic Exposure to Sulfide Causes Accelerated Degradation of Cytochrome c Oxidase in Ethylmalonic Encephalopathy

(2010) Ivano Di Meo et al.   ANTIOXIDANTS & REDOX SIGNALING

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

Reduction of lipid and protein damage in patients with disorders of propionate metabolism under treatment: a possible protective role of l-carnitine supplementation

(2010) Graziela S. Ribas et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

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

Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature

(2009) Handan Cakmakci et al.   EUROPEAN JOURNAL OF RADIOLOGY

Short-Term Rescue of Neonatal Lethality in a Mouse Model of Propionic Acidemia by Gene Therapy

(2009) Sean E. Hofherr et al.   HUMAN GENE THERAPY

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

(2009) Eva Richard et al.   HUMAN MUTATION

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

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

Profiling of oxidative stress in patients with inborn errors of metabolism

(2009) Peter J. Mc Guire et al.   MOLECULAR GENETICS AND METABOLISM

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

Promotion of Lipid and Protein Oxidative Damage in Rat Brain by Ethylmalonic Acid

(2009) Patrícia Fernanda Schuck et al.   NEUROCHEMICAL RESEARCH

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

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1

(2008) Britta Keyser et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial dysfunction in mut methylmalonic acidemia

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

Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats

(2008) Alexandre F. Solano et al.   FREE RADICAL RESEARCH

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

(2008) Cyril Gitiaux et al.   MOVEMENT DISORDERS