Found: 14
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Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5598, doi. 10.3390/ijms22115598
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- Publication type:
- Article
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
- Published in:
- Neuroradiology, 2024, v. 66, n. 3, p. 389, doi. 10.1007/s00234-023-03263-1
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- Publication type:
- Article
iTRAQ-based analysis of progerin expression reveals mitochondrial dysfunction, reactive oxygen species accumulation and altered proteostasis.
- Published in:
- Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0110-5
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- Article
Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.
- Published in:
- BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/9498140
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- Publication type:
- Article
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 6, p. 3238, doi. 10.1007/s00415-021-10942-7
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- Publication type:
- Article
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.
- Published in:
- Antioxidants, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/antiox11040741
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- Publication type:
- Article
Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects.
- Published in:
- Antioxidants, 2022, v. 11, n. 3, p. 510, doi. 10.3390/antiox11030510
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- Publication type:
- Article
A Case of IL-7R Deficiency Caused by a Novel synonymous Mutation and Implications for Mutation screening in sCID Diagnosis.
- Published in:
- Frontiers in Immunology, 2016, v. 7, p. 1, doi. 10.3389/fimmu.2016.00443
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- Publication type:
- Article
High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 2, p. 538, doi. 10.1111/ene.15626
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- Publication type:
- Article
Precipitado negro en nutrición parenteral.
- Published in:
- 2019
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- Publication type:
- journal article
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT- ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox- Gastaut Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1623, doi. 10.1002/humu.22445
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- Publication type:
- Article
Soluble fms-like tyrosine kinase-1: a potential early predictor of respiratory failure in COVID-19 patients.
- Published in:
- 2021
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- Publication type:
- Letter
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
- Published in:
- BMC Nephrology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2369-14-195
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- Publication type:
- Article
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article