Found: 22
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Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused byALDH7A1 Mutations: Normal Neurocognitive Outcome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 648, doi. 10.1177/0883073814531331
- By:
- Publication type:
- Article
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0234-9
- By:
- Publication type:
- Article
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 5, p. 707, doi. 10.1111/epi.12954
- By:
- Publication type:
- Article
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2226, doi. 10.1002/ajmg.a.38281
- By:
- Publication type:
- Article
BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1640, doi. 10.1002/ajmg.a.38127
- By:
- Publication type:
- Article
MED23-associated refractory epilepsy successfully treated with the ketogenic diet.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2421, doi. 10.1002/ajmg.a.37802
- By:
- Publication type:
- Article
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.
- Published in:
- Molecular Genetics & Genomics, 2015, v. 290, n. 6, p. 2163, doi. 10.1007/s00438-015-1067-x
- By:
- Publication type:
- Article
Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler.
- Published in:
- World Journal of Pediatrics, 2009, v. 5, n. 4, p. 319, doi. 10.1007/s12519-009-0062-x
- By:
- Publication type:
- Article
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 2, p. 443, doi. 10.1007/s11011-016-9933-8
- By:
- Publication type:
- Article
Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 873, doi. 10.1515/jpem-2014-0441
- By:
- Publication type:
- Article
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 5, p. 550, doi. 10.1002/ana.21568
- By:
- Publication type:
- Article
Fright is a provoking factor in vanishing white matter disease.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 560
- By:
- Publication type:
- Article
Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in- vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 133, doi. 10.1007/s10545-011-9357-x
- By:
- Publication type:
- Article
Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 11, p. 1500, doi. 10.1177/0883073812458538
- By:
- Publication type:
- Article
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
- Published in:
- Human Mutation, 2016, v. 37, n. 9, p. 927, doi. 10.1002/humu.23018
- By:
- Publication type:
- Article
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 462, doi. 10.1002/humu.22511
- By:
- Publication type:
- Article
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
- Published in:
- Human Mutation, 2006, v. 27, n. 8, p. 748, doi. 10.1002/humu.20349
- By:
- Publication type:
- Article
Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.
- Published in:
- 2017
- By:
- Publication type:
- Interview
Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!
- Published in:
- 2016
- By:
- Publication type:
- Letter