Found: 35
Select item for more details and to access through your institution.
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
- Published in:
- Journal of Child Neurology, 2020, v. 35, n. 2, p. 137, doi. 10.1177/0883073819881940
- By:
- Publication type:
- Article
Corrigendum: Swanson MA, Coughlin CR Jr, Scharer GH, et al: Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol 2015;78:606-618.
- Published in:
- 2016
- By:
- Publication type:
- corrected article
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1585, doi. 10.3390/genes14081585
- By:
- Publication type:
- Article
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03172-3
- By:
- Publication type:
- Article
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis.
- Published in:
- Journal of Bone & Mineral Research, 2003, v. 18, n. 10, p. 1740, doi. 10.1359/jbmr.2003.18.10.1740
- By:
- Publication type:
- Article
Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. N.PAG, doi. 10.1038/s41467-022-30236-4
- By:
- Publication type:
- Article
Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30236-4
- By:
- Publication type:
- Article
Purification of recombinant human precursor acid α-glucosidase.
- Published in:
- IUBMB Life, 1997, v. 43, n. 3, p. 613, doi. 10.1080/15216549700204421
- By:
- Publication type:
- Article
Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.
- Published in:
- IUBMB Life, 1996, v. 39, n. 4, p. 755, doi. 10.1080/15216549600201841
- By:
- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1
- By:
- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1
- By:
- Publication type:
- Article
Clinical and biochemical characterization of four patients with mutations in ECHS1.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 734, doi. 10.1002/jimd.12500
- By:
- Publication type:
- Article
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 157, doi. 10.1002/jimd.12448
- By:
- Publication type:
- Article
Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 926, doi. 10.1002/jimd.12365
- By:
- Publication type:
- Article
In Memoriam.
- Published in:
- 2021
- By:
- Publication type:
- Obituary
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 424, doi. 10.1002/jimd.12085
- By:
- Publication type:
- Article
Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 438, doi. 10.1002/jimd.12072
- By:
- Publication type:
- Article
Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 565, doi. 10.1002/jimd.12059
- By:
- Publication type:
- Article
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 353, doi. 10.1002/jimd.12045
- By:
- Publication type:
- Article
In memoriam.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 751, doi. 10.1007/s10545-018-0191-2
- By:
- Publication type:
- Article
Successful liver transplantation in hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome: Case report.
- Published in:
- Pediatric Transplantation, 2021, v. 25, n. 6, p. 1, doi. 10.1111/petr.13943
- By:
- Publication type:
- Article
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
- Published in:
- 2008
- By:
- Publication type:
- journal article
The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 5, p. 571, doi. 10.1007/s10545-010-9187-2
- By:
- Publication type:
- Article
Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects.
- Published in:
- Phytotherapy Research, 2014, v. 28, n. 2, p. 312, doi. 10.1002/ptr.4988
- By:
- Publication type:
- Article
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 223, doi. 10.1002/jmd2.12360
- By:
- Publication type:
- Article
Expansion Cranioplasty with Jackscrew Distracters for Craniosynostosis and Intracranial Hypertension in Transplanted Osteopetrosis.
- Published in:
- Pediatric Neurosurgery, 2007, v. 43, n. 2, p. 102, doi. 10.1159/000098381
- By:
- Publication type:
- Article
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 4, p. 702, doi. 10.1093/hmg/ddw431
- 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
Concerns regarding transience and heterozygosity in neonatal hyperglycenemia.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 5, p. 685
- By:
- Publication type:
- Article
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
- Published in:
- 2022
- By:
- Publication type:
- journal article