Found: 15
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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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- Article
Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10375, doi. 10.3390/ijms221910375
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- Publication type:
- Article
Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020518
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- Article
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 6, p. 971, doi. 10.1007/s00401-020-02223-w
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- Article
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2018, p. 1, doi. 10.1155/2018/1246069
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- Publication type:
- Article
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-92
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- Publication type:
- Article
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
- Published in:
- 2014
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- Publication type:
- journal article
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 551, doi. 10.1002/jimd.12689
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- Publication type:
- Article
Expanding the genetic and phenotypic spectrum of branched‐chain amino acid transferase 2 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 5, p. 809, doi. 10.1002/jimd.12135
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- Publication type:
- Article
Synaptic energy metabolism and neuronal excitability, in sickness and health.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 220, doi. 10.1002/jimd.12071
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- Publication type:
- Article
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 470, doi. 10.1002/humu.22513
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- Publication type:
- Article
A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM 1 K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 355, doi. 10.1002/humu.22242
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- Publication type:
- Article
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2459, doi. 10.1002/ajmg.a.61357
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- Article
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.
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- Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04622-5
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- Publication type:
- Article