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1 - 10 of 12 results found for ALDH7A1. Did you mean: alpha1

  1. Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu...

    http://iris.ucl.ac.uk/iris/publication/1045453/3

  2. Dutch cohort with alpha-aminoadipic semialdehyde dehydrogenase deficiency (pyridoxine...

    http://iris.ucl.ac.uk/iris/publication/191654/3

  3. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

    http://iris.ucl.ac.uk/iris/publication/240710/3

  4. An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)

    Recently, alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was shown to cause pyridoxine-dependent epilepsy in a considerable number of patients. alpha-AASA dehydrogenase deficiency is an autosomal recessive disorder

    http://iris.ucl.ac.uk/iris/publication/96428/1

  5. 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-dependent dehydrogenation of l-alpha-aminoadipic

    http://iris.ucl.ac.uk/iris/publication/240710/2

  6. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy...

    Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency of α-aminoadipic semialdehyde dehydrogenase, which is a key enzyme in lysine oxidation. PDE-ALDH7A1 is a developmental and epileptic encephalopathy

    http://iris.ucl.ac.uk/iris/publication/1829122/1

  7. Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

    In pyridoxine dependent epilepsy (PDE), patients usually present with neonatal seizures. A small subgroup is characterized by late-onset beyond 2 months of age. We aim to analyze the observation of relatively good cognitive outcome in this subgroup

    http://iris.ucl.ac.uk/iris/publication/1551142/1

  8. Genotype-phenotype correlates of infantile-onset developmental & epileptic...

    © 2020 Elsevier B.V. Introduction: A paucity of literature exists on genotype- phenotype correlates of ‘unknown-etiology’ infantile-onset developmental-epileptic encephalopathies (DEE) from India. The primary objective was to explore the yield

    http://iris.ucl.ac.uk/iris/publication/1795260/1

  9. Pyridoxine responsiveness in novel mutations of the PNPO gene.

    OBJECTIVE: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations. METHODS: We sequenced the PNPO gene in 31 patients who

    http://iris.ucl.ac.uk/iris/publication/940245/2

  10. The effectiveness of correcting abnormal metabolic profiles

    Inborn errors of metabolism cause disease because of accumulation of a metabolite before the blocked step or deficiency of an essential metabolite downstream of the block. Treatments can be directed at reducing the levels of a toxic metabolite or

    http://iris.ucl.ac.uk/iris/publication/1669357/1

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