26 results on '"Freisinger, Peter"'
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2. The synthesis of fibroblast growth factor 23 (FGF23) is up-regulated by homocysteine in UMR106 osteoblast-like cells
3. The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuria
4. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches
5. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
6. Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation
7. The genotypic and phenotypic spectrum of MTO1 deficiency
8. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy
9. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
10. Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions
11. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
12. COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
13. Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
14. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening
15. FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy
16. Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
17. Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
18. ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
19. Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
20. Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway
21. Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children
22. Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency
23. 28. Neurological phenotype is the key predictor of long-term outcome in mitochondrial DNA depletion resulting from deoxyguanosine kinase deficiency
24. 28 Relevance of functional investigations of intact mitochondria in the diagnosis of mitochondrial disorders
25. Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
26. The genotypic and phenotypic spectrum of MTO1 deficiency
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