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J

Johan L.K. Van Hove

university of colorado anschutz medical campus
H指数:45
被引数:6,800

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A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency
2026-01-280
OAAI
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome

FASTKD5基因的双等位基因突变与细胞色素c氧化酶缺乏症以及早发型至晚发型 Leigh 综合征相关。

2025-06-100
PRE
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
2024-11-211
OAAI
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis
2024-09-010
PRE
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases
2024-01-017
PRE
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial
2023-07-1820
OAAI
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children
2023-06-017
OAAI
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
2022-12-0610
OA
Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

生酮饮食作为非酮症性高血糖症的降甘氨酸疗法及其对大脑甘氨酸水平的影响

2022-12-057
OAAI
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
2022-10-038
OAAI
Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment (vol 13, 2769, 2022)
2022-06-201
OAAI
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
2022-06-0113
OAAI