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Journal of inherited metabolic disease, ISSN 0141-8955, 1978
Journal
Clinics in Perinatology, ISSN 0095-5108, 06/2015, Volume 42, Issue 2, pp. 413 - 439
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
2001, 8th ed., ISBN 9780071163361, 4 v. (xlvii, 6338, I-140 p.)
Book
Brain (London, England : 1878), ISSN 1460-2156, 2016, Volume 139, Issue 2, pp. 317 - 337
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2015, Volume 116, Issue 4, pp. 231 - 241
Tandem MS “profiling” of acylcarnitines and amino acids was conceived as a first-tier screening method, and its application to expanded newborn screening has... 
Newborn screening follow-up | Second-tier analysis | Carnitine analysis | Quantitative acylcarnitine analysis | Metabolism research | MEDICINE, RESEARCH & EXPERIMENTAL | DIFFERENTIAL-DIAGNOSIS | TOTAL CARNITINE | ACID CHAIN-ELONGATION | DRIED BLOOD SPOTS | MASS-SPECTROMETRY | INBORN-ERRORS | PERFORMANCE LIQUID-CHROMATOGRAPHY | ISOVALERIC ACIDEMIA | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | HUMAN-URINE | MOLECULAR-BASIS | Lipid Metabolism, Inborn Errors - urine | Betaine - cerebrospinal fluid | Carbon-Carbon Ligases - blood | Chromatography, High Pressure Liquid - methods | Chromatography, High Pressure Liquid - standards | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Male | Carbon-Carbon Ligases - cerebrospinal fluid | Neonatal Screening | Isomerism | Acyl-CoA Dehydrogenase - urine | Amino Acid Metabolism, Inborn Errors - diagnosis | Urea Cycle Disorders, Inborn - urine | Amino Acid Metabolism, Inborn Errors - urine | Sensitivity and Specificity | Acetyl-CoA C-Acyltransferase - urine | Acetyl-CoA C-Acyltransferase - blood | Carnitine - urine | Carnitine - cerebrospinal fluid | Female | Betaine - blood | Betaine - urine | Carbon-Carbon Ligases - deficiency | Carnitine - analogs & derivatives | Urea Cycle Disorders, Inborn - blood | Infant, Newborn | Acetyl-CoA C-Acyltransferase - cerebrospinal fluid | Lipid Metabolism, Inborn Errors - cerebrospinal fluid | Reproducibility of Results | Tandem Mass Spectrometry - standards | Lipid Metabolism, Inborn Errors - blood | Lipid Metabolism, Inborn Errors - diagnosis | Carnitine - blood | Carbon-Carbon Ligases - urine | Acyl-CoA Dehydrogenase - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - blood | Betaine - analogs & derivatives | Urea Cycle Disorders, Inborn - diagnosis | Acyl-CoA Dehydrogenase - blood | Acyl-CoA Dehydrogenase - deficiency | Acetyl-CoA C-Acyltransferase - deficiency | Urea Cycle Disorders, Inborn - cerebrospinal fluid | Analysis | Carnitine | metabolism research | second-tier analysis | carnitine analysis | newborn screening follow-up
Journal Article