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Movement Disorders in Adult Patients With Classical Galactosemia.
- Published in:
- Movement Disorders, 2013, v. 28, n. 6, p. 804, doi. 10.1002/mds.25348
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- Publication type:
- Article
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.
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- Journal of Pharmacy & Pharmacology, 2017, v. 69, n. 4, p. 480, doi. 10.1111/jphp.12701
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- Publication type:
- Article
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 178, doi. 10.1002/jimd.12332
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- Article
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1350, doi. 10.1093/brain/awu051
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- Article
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
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- Brain: A Journal of Neurology, 2010, v. 133, n. 7, p. 2148, doi. 10.1093/brain/awq143
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- Publication type:
- Article
Inborn errors of metabolism causing epilepsy.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 1, p. 23, doi. 10.1111/j.1469-8749.2012.04406.x
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- Publication type:
- Article