Found: 24
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The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients.
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- Arthritis Research & Therapy, 2019, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13075-019-1860-8
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- Article
Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 1935, doi. 10.3390/ijms22041935
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- Article
Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of F<sub>o</sub>-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.
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- Biochemical Journal, 2015, v. 466, n. 3, p. 601, doi. 10.1042/BJ20141462
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- Article
Treatment With Resveratrol Ameliorates Mitochondrial Dysfunction During the Acute Phase of Status Epilepticus in Immature Rats.
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- Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.634378
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- Article
Náhodný nález splenomegalie jako hlavní příznak vedoucí k diagnóze Niemann-Pickovy choroby typu B u dospělého pacienta.
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- Medicina Pro Praxi, 2023, v. 20, n. 2, p. 112, doi. 10.36290/med.2023.016
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- Article
PSYCHOLOGICKÉ NÁLEZY V RODINĚ PACIENTŮ S NIEMANN-PICKOVOU CHOROBOU TYPU C.
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- Psychologie Pro Praxi, 2014, n. 3/4, p. 143
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- Article
Status Epilepticus in Immature Rats Is Associated with Oxidative Stress and Mitochondrial Dysfunction.
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- Frontiers in Cellular Neuroscience, 2016, p. 1, doi. 10.3389/fncel.2016.00136
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- Publication type:
- Article
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 2, p. 327, doi. 10.1002/jimd.12700
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- Publication type:
- Article
Influence of early identification and therapy on long‐term outcomes in early‐onset MTHFR deficiency.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 848, doi. 10.1002/jimd.12504
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- Publication type:
- Article
Postauthorization safety study of betaine anhydrous.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 719, doi. 10.1002/jimd.12499
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- Publication type:
- Article
Severe hyperuricemia in two children with acute gastroenteritis: answers.
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- Pediatric Nephrology, 2020, v. 35, n. 8, p. 1431, doi. 10.1007/s00467-020-04493-8
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- Publication type:
- Article
Severe hyperuricemia in two children with acute gastroenteritis: Questions.
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- 2020
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- Case Study
Metabolism of sulfur compounds in homocystinurias.
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- 2019
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- Publication type:
- journal article
Metabolické myopatie.
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- Neurologie Pro Praxi, 2022, v. 23, n. 1, p. 24
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- Publication type:
- Article
Pozdní diagnóza mukopolysacharidózy I. typu u dívky s kontrakturami rukou.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2023, v. 78, n. 3, p. 155, doi. 10.55095/cspediatrie2023/020
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- Publication type:
- Article
Transplantace kmenových buněk krvetvorby u dětí s dědičnými metabolickými poruchami a maligní infantilní osteopetrózou.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 5, p. 276
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- Publication type:
- Article
Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment.
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- Arthritis Research & Therapy, 2023, v. 25, n. 1, p. 1, doi. 10.1186/s13075-023-03204-6
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- Publication type:
- Article
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 ε subunit.
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- Human Molecular Genetics, 2010, v. 19, n. 17, p. 3430, doi. 10.1093/hmg/ddq254
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- Publication type:
- Article
Protective Effect of Sulforaphane on Oxidative Stress and Mitochondrial Dysfunction Associated with Status Epilepticus in Immature Rats.
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- Molecular Neurobiology, 2023, v. 60, n. 4, p. 2024, doi. 10.1007/s12035-022-03201-x
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- Publication type:
- Article
Effect of Resveratrol on Oxidative Stress and Mitochondrial Dysfunction in Immature Brain during Epileptogenesis.
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- Molecular Neurobiology, 2018, v. 55, n. 9, p. 7512, doi. 10.1007/s12035-018-0924-0
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- Publication type:
- Article
Antioxidant enzymes in cerebral cortex of immature rats following experimentally-induced seizures: upregulation of mitochondrial MnSOD (SOD2)
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- International Journal of Developmental Neuroscience, 2013, v. 31, n. 2, p. 123, doi. 10.1016/j.ijdevneu.2012.11.011
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- Publication type:
- Article
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study.
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- Nutrients, 2021, v. 13, n. 9, p. 2925, doi. 10.3390/nu13092925
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- Publication type:
- Article
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
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- Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 8, p. 1168, doi. 10.1515/cclm-2016-0715
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- Publication type:
- Article
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
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- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-0711-1
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- Publication type:
- Article