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Characterization of the renal phenotype in RMND1‐related mitochondrial disease.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.973
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- Article
Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 365, doi. 10.1002/ajmg.a.61433
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- Article
Autism and inborn errors of metabolism: how much is enough?
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- Developmental Medicine & Child Neurology, 2015, v. 57, n. 9, p. 788, doi. 10.1111/dmcn.12771
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- Article
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
- Published in:
- PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221829
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- Article
Oxidative phosphorylation regulates B cell effector cytokines and promotes inflammation in multiple sclerosis.
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- Science Immunology, 2024, v. 9, n. 95, p. 1, doi. 10.1126/sciimmunol.adk0865
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- Article
BTK inhibition limits B-cell–T-cell interaction through modulation of B-cell metabolism: implications for multiple sclerosis therapy.
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- Acta Neuropathologica, 2022, v. 143, n. 4, p. 505, doi. 10.1007/s00401-022-02411-w
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- Article
MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 499, doi. 10.1002/humu.23723
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- Article