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

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

α-Ketoisocaproic acid and leucine provoke mitochondrial bioenergetic dysfunction in rat brain

(2010) Alexandre Umpierrez Amaral et al.   BRAIN RESEARCH

Liver-Directed Recombinant Adeno-Associated Viral Gene Delivery Rescues a Lethal Mouse Model of Methylmalonic Acidemia and Provides Long-Term Phenotypic Correction

(2010) Nuria Carrillo-Carrasco et al.   HUMAN GENE THERAPY

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

Docosahexaenoic acid status in females of reproductive age with maple syrup urine disease

(2010) Laura M. Mazer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ornithine alpha-ketoglutarate: Could it be a new therapeutic option for sarcopenia?

(2010) S. Walrand   Journal of Nutrition Health & Aging

Chronic Intermittent Form of Isovaleric Acidemia Mimicking Diabetic Ketoacidosis

(2010) Ela Erdem et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening

(2010) Jaffar Alfardan et al.   MOLECULAR GENETICS AND METABOLISM

Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia

(2009) Sabine Scholl-Bürgi et al.   AMINO ACIDS

Mitochondria Targeted Peptides Protect Against 1-Methyl-4-Phenyl-1,2,3,6-Tetrahydropyridine Neurotoxicity

(2009) Lichuan Yang et al.   ANTIOXIDANTS & REDOX SIGNALING

Hepatocyte transplantation (HTx) corrects selected neurometabolic abnormalities in murine intermediate maple syrup urine disease (iMSUD)

(2009) Kristen J. Skvorak et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

(2009) W. J. Zinnanti et al.   BRAIN

Creatine administration prevents Na + ,K + -ATPase inhibition induced by intracerebroventricular administration of isovaleric acid in cerebral cortex of young rats

(2009) César Augusto João Ribeiro et al.   BRAIN RESEARCH

Treatment of mitochondrial disorders

(2009) Josef Finsterer   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia

(2009) D. T. Loots   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

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

(2009) U. Spiekerkoetter 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

Classical maple syrup urine disease and brain development: Principles of management and formula design

(2009) Kevin A. Strauss et al.   MOLECULAR GENETICS AND METABOLISM

Hepatocyte Transplantation Improves Phenotype and Extends Survival in a Murine Model of Intermediate Maple Syrup Urine Disease

(2009) Kristen J Skvorak et al.   MOLECULAR THERAPY

Continuous venovenous haemodialysis (CVVHD) and continuous peritoneal dialysis (CPD) in the acute management of 21 children with inborn errors of metabolism

(2009) A. K. Arbeiter et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain

(2009) D. Ballhausen et al.   NEUROSCIENCE

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

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

Amino acids levels and lipid peroxidation in maple syrup urine disease patients

(2008) Alethéa G. Barschak et al.   CLINICAL BIOCHEMISTRY

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

Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres

(2008) T. Zwickler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Effectiveness of a Clinical Pathway for the Emergency Treatment of Patients With Inborn Errors of Metabolism

(2008) D. J. Zand et al.   PEDIATRICS

Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance

(2008) Mario Castorina et al.   SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

(2007) Peter J. Mc Guire et al.   MOLECULAR GENETICS AND METABOLISM

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism

(2007) Jörn Oliver Sass et al.   MOLECULAR GENETICS AND METABOLISM