Mitochondrial Diseases

Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Endocrinology / Genetics / Functional Analysis / Cardiology / Hematology / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis

Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases

Bioenergetics / Energy Metabolism / Transcription / Cell line / Mitochondrial DNA / Humans / Computer Simulation / Muscle / Animals / Mitochondrial Respiratory Chain / Expression / Mitochondrial Diseases / Energy Production / Replication / Oxidative phosphorylation / Biochemistry and cell biology / Humans / Computer Simulation / Muscle / Animals / Mitochondrial Respiratory Chain / Expression / Mitochondrial Diseases / Energy Production / Replication / Oxidative phosphorylation / Biochemistry and cell biology

MELAS:clinical features,biochemistry and Molecular Genetics

Mitochondrial Diseases

A Drosophila Model of Mitochondrial DNA Replication: Proteins, Genes and Regulation

DNA replication / Drosophila / Mitochondrial DNA / Animals / Gene Order / Mitochondrial Diseases / Biochemistry and cell biology / Gene Expression Regulation / Mitochondrial Proteins / Mitochondrial Diseases / Biochemistry and cell biology / Gene Expression Regulation / Mitochondrial Proteins

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

Epidemiology / Medical Genetics / Molecular Genetics / Biological Sciences / Humans / Mutation / Phenotype / Mitochondrial Diseases / Medical / DNA mutational analysis / genetic heterogeneity / Mutation / Phenotype / Mitochondrial Diseases / Medical / DNA mutational analysis / genetic heterogeneity

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