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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. ProtonExpand
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Mutations in antiquitin in individuals with pyridoxine-dependent seizures
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as aExpand
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Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported casesExpand
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High prevalence of SLC6A8 deficiency in X-linked mental retardation.
A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We haveExpand
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IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria
A mutation that changes the specificity of an enzyme in human cancer is also found in an inherited metabolic disorder. Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase-1Expand
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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy characterized by early onset epileptic encephalopathy responsive to large dosages of pyridoxine. Despite seizure controlExpand
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Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependentExpand
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Progress in understanding 2-hydroxyglutaric acidurias
The organic acidurias d-2-hydroxyglutaric aciduria (D-2-HGA), l-2-hydroxyglutaric aciduria (L-2-HGA), and combined d,l-2-hydroxyglutaric aciduria (D,L-2-HGA) cause neurological impairment at youngExpand
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Long-term outcome in 134 patients with galactosaemia
In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced and their long-term outcome evaluated. We investigated 83 galactosaemicExpand
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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Abstract Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has been associated with aExpand
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