about
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiencyArgininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screeningStructural variation of chromosomes in autism spectrum disorderMudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiencyNewborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.Ovarian function in Duarte galactosemiaEpimerase-deficiency galactosemia is not a binary condition.A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.Multiple phenotypes in phosphoglucomutase 1 deficiency.A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyCobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.Low bone mineral density is a common finding in patients with homocystinuria.Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation.Isolated neonatal seizures: when to suspect inborn errors of metabolism.Adolescent presentations of inborn errors of metabolism.An 8-year-old girl with abdominal pain and mental status changes.Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.Brain magnetic resonance imaging findings in 49,XXXXY syndrome.FDG-PET findings in patients with galactosaemia.Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype.Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening.Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening.Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.Liver pathology in infantile mitochondrial DNA depletion syndrome.Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.Long-term follow-up of four patients affected by HHH syndrome.Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytesMRI findings in succinic semialdehyde dehydrogenase deficiency
P50
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P50
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Can Ficicioglu
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P106
P1153
8219490500
P21
P31
P496
0000-0002-8331-9804
P569
2000-01-01T00:00:00Z