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Suggested guidelines for the diagnosis and management of urea cycle disordersPeroxisomal acyl-CoA-oxidase deficiency: two new casesA severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutationEthylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlationDifferential diagnosis of food protein-induced enterocolitis syndromeRecommendations for the management of tyrosinaemia type 1Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemiaVici syndrome: a reviewThe mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoformsTBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAnalysis of Sanfilippo A gene mutations in a large pedigreeUnderstanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineA new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblastsMethylmalonic and propionic aciduriaThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type CNovel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease.A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric prOpposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy.Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH) deficiencyThe ketogenic diet in children, adolescents and young adults with refractory epilepsy: an Italian multicentric experience.Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyCongenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies.Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome.Plasma levels of homocysteine and cysteine increased in pediatric NAFLD and strongly correlated with severity of liver damage.Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.RFT1 deficiency in three novel CDG patientsCross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
P50
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P1053
K-2045-2018
P106
P1153
7006329633
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P3829
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0000-0002-0007-3379