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Multi-exon deletion in the XDH gene as a cause of classical xanthinuriaEggermann T,2013
Inborn errors of metabolism causing epilepsyRahman S,2013
Ammonium Accumulation and Cell Death in a Rat 3D Brain Cell Model of Glutaric Aciduria Type IJafari P,2013
Liver transplantation and cell therapies for inborn errors of metabolismMcKiernan P2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureWortmann SB,2013
Survey of health status and complications among propionic acidemia patientsPena L,2012
Propionic AcidemiaCarrillo-Carrasco N,2012
Juvenile glaucoma in propionic acidemiaRosentreter A,2012
Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolismCoelho D,2012
Congenital adrenal hyperplasia: a rare cause of renal failure and a successful renal transplantationGungor O,2012
Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patientsNavarro-Sastre A,2012
Cerebrotendinous xanthomatosis: a rare disorder with a rare presentationAgrawal NK,2012
Progress in understanding 2-hydroxyglutaric aciduriasMartijn Kranendijk,2012
Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiologyMolho-Pessach V,2012
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenaseSass JO,2012
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningArnold GL,2012
The 3-methylglutaconic acidurias: whats new?Wortmann SB,2012
5-Oxoprolinase deficiency: report of the first human OPLAH mutation.Almaghlouth IA,2012
Neurocognitive phenotype of isolated methylmalonic acidemiaO'Shea CJ,2012
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and managementCarrillo-Carrasco N,2012
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomesCarrillo-Carrasco N,2012
Role of vitamin B12 on methylmalonyl-CoA mutase activityTakahashi-Iñiguez T2012
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria]Liu YP,2012
Recommendations for diagnosis and management of metformin-induced vitamin B12 (Cbl) deficiencyMazokopakis EE,2012
Cobalamin deficiencyHerrmann W,2012
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patternsTanner SM,2012
Severe vitamin B12 deficiency in an exclusively breastfed 5-month-old Italian infant born to a mother receiving multivitamin supplementation during pregnancyGuez S,2012
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolismStucki M,2012
Update and new concepts in vitamin responsive disorders of folate transport and metabolismWatkins D,2012
Mutations in ABCD4 cause a new inborn error of vitamin B(12) metabolismCoelho D,2012
Methionine synthase deficiency: a rare cause of adult-onset leukoencephalopathyOutteryck O,2012
Leukoencephalopathies associated with disorders of cobalamin and folate metabolismWilcken B2012
Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experienceMazariegos GV,2012
Young Adults with MSUD and Their Transition to Adulthood: Psychosocial IssuesPackman W,2012
Analysis of gene mutations in Chinese patients with maple syrup urine diseaseYang N,2012
Domino liver transplantation: how far can we push the paradigm?Popescu I,2012
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemiaDi Filippo M,2012
Clinical utility gene card for: AbetalipoproteinaemiaBurnett JR,2012
Genetics and molecular basis of human peroxisome biogenesis disordersWaterham HR,2012
Zellweger Syndrome and Associated Brain Malformations: Report of a Novel Peroxin1(PEX1) Mutation in a Native American InfantMohebbi MR,2012
A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationLevesque S,2012
Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic VariantsSturm M,2012
MCAD deficiency in DenmarkAndresen BS,2012
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]Feillet F,2012
Acatalasemia and diabetes mellitusGóth L,2012
A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patientsNagy T,2012
AceruloplasminemiaKono S2012
Acrodermatitis enteropathicaAzemi M,2012
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10)Horvath R2012
A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workupFrancescato G,2012
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.Meimaridou E,2012