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JOURNAL OF LIPID RESEARCH, ISSN 0022-2275, 02/2011, Volume 52, Issue 2, pp. 189 - 206
Journal Article
Journal of Experimental Medicine, ISSN 0022-1007, 12/2005, Volume 202, Issue 12, pp. 1617 - 1621
Journal Article
Seminars in Immunology, ISSN 1044-5323, 2014, Volume 26, Issue 6, pp. 454 - 470
Abstract Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly... 
Allergy and Immunology | IFN-γ | Tuberculosis | BCG | ISG15 | Mycobacteriosis | IL-12 | Primary immunodeficiency | CHRONIC MULTIFOCAL OSTEOMYELITIS | INHERITED INTERLEUKIN-12 DEFICIENCY | FUNCTION STAT1 MUTATIONS | RECEPTOR BETA-1 DEFICIENCY | CHRONIC GRANULOMATOUS-DISEASE | RECESSIVE IFN-GAMMA-R1 DEFICIENCY | IMMUNOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | AVIUM COMPLEX INFECTION | IFN-gamma | BACILLE CALMETTE-GUERIN | STEM-CELL TRANSPLANTATION | Candidiasis - genetics | Tuberculosis, Pulmonary - microbiology | Coinfection | Metabolism, Inborn Errors - microbiology | Humans | Salmonella Infections - genetics | Immunity, Innate - genetics | Mycobacterium tuberculosis - immunology | Salmonella Infections - immunology | Candidiasis - microbiology | Tuberculosis, Pulmonary - genetics | Host-Pathogen Interactions - immunology | Interferon-gamma - genetics | Candidiasis - immunology | Candidiasis - pathology | Severity of Illness Index | Salmonella Infections - pathology | Genetic Predisposition to Disease | Genotype | Tuberculosis, Pulmonary - pathology | Metabolism, Inborn Errors - genetics | Genetic Heterogeneity | Metabolism, Inborn Errors - immunology | Phenotype | Tuberculosis, Pulmonary - immunology | Host-Pathogen Interactions - genetics | Interferon-gamma - immunology | Salmonella Infections - microbiology | Metabolism, Inborn Errors - pathology | tuberculosis | primary immunodeficiency | mycobacteriosis
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 02/2019, Volume 90, Issue 2, pp. 211 - 218
In adulthood, spinal cord MRI abnormalities such as T2-weighted hyperintensities and atrophy are commonly associated with a large variety of causes... 
hereditary spastic paraplegia | metabolic disease | MRI | neurogenetics | myelopathy | Urine | Plasma | Multiple sclerosis | Spinal cord | Genetic disorders | Nuclear magnetic resonance--NMR | Disease | Dietary minerals | Vitamin deficiency | Mitochondrial DNA | Atrophy | Neurology | Vitamin E | Vitamin B | Nitrous oxide | Adults | Paralysis | Mutation | Copper | Homocysteine | Metabolic disorders | Life Sciences
Journal Article
Current Opinion in Pediatrics, ISSN 1040-8703, 12/2010, Volume 22, Issue 6, pp. 711 - 716
Purpose of review Mitochondrial diseases are individually uncommon, but collectively pose a significant burden on human health. Primary mitochondrial disease... 
diagnosis | nDNA | mtDNA | therapy | respiratory chain | DEFECTS | C-OXIDASE DEFICIENCY | MUSCLE | DISORDERS | MYOPATHY | LEIGH-SYNDROME | DNA | PEDIATRICS | PATIENT | MUTATIONS | Mitochondrial Diseases - genetics | Antioxidants - therapeutic use | DNA, Mitochondrial - genetics | Mitochondrial Diseases - therapy | Humans | Mitochondrial Diseases - diagnosis
Journal Article