Found: 19
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Non‐syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 505, doi. 10.1111/cge.14573
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- Publication type:
- Article
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
Pyridoxal 5′-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxylase and vitamin B<sub>6</sub> deficiency states.
- Published in:
- Journal of Neurochemistry, 2010, v. 114, n. 1, p. 87, doi. 10.1111/j.1471-4159.2010.06742.x
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- Publication type:
- Article
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 3003, doi. 10.1093/brain/awad010
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- Publication type:
- Article
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy.
- Published in:
- Journal of Pharmacy & Pharmacology, 2017, v. 69, n. 4, p. 480, doi. 10.1111/jphp.12701
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- Publication type:
- Article
TRNT1 deficiency: clinical, biochemical and molecular genetic features.
- Published in:
- 2016
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- Publication type:
- journal article
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 178, doi. 10.1002/jimd.12332
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- Publication type:
- Article
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 385, doi. 10.1007/s10545-017-0025-7
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- Publication type:
- Article
Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 851, doi. 10.1007/s10545-014-9695-6
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- Publication type:
- Article
Measurement of plasma B vitamer profiles in children with inborn errors of vitamin B metabolism using an LC-MS/MS method.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 139, doi. 10.1007/s10545-012-9493-y
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- Publication type:
- Article
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 6, p. 1031, doi. 10.1007/s10545-012-9466-1
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- Publication type:
- Article
Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 2, p. 529, doi. 10.1007/s10545-011-9279-7
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- Publication type:
- Article
Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 5, p. 317, doi. 10.1002/jmd2.12386
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- Publication type:
- Article
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 137, doi. 10.1002/jmd2.12274
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- Publication type:
- Article
Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 123, doi. 10.1002/jmd2.12266
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- Publication type:
- Article
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1350, doi. 10.1093/brain/awu051
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- Publication type:
- Article
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
- Published in:
- 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
Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.
- Published in:
- Metabolites (2218-1989), 2019, v. 9, n. 11, p. 275, doi. 10.3390/metabo9110275
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- Publication type:
- Article