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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 Article
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2017, Volume 127, Issue 12, pp. 4365 - 4378
Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism characterized by neurodegeneration and death in early childhood. The... 
ENCEPHALOPATHY | MEDICINE, RESEARCH & EXPERIMENTAL | BIOLOGICAL FUNCTION | GEPHYRIN | METABOLISM | CALCIUM | INJURY | SULFITE OXIDASE DEFICIENCY | MOLECULAR-BASIS | DEHYDROGENASE | INBORN-ERRORS | Cysteine - analogs & derivatives | Metal Metabolism, Inborn Errors - metabolism | Receptors, N-Methyl-D-Aspartate - antagonists & inhibitors | Humans | Receptors, N-Methyl-D-Aspartate - metabolism | Synapses - pathology | Neurodegenerative Diseases - drug therapy | Tungsten Compounds - toxicity | Synapses - metabolism | HEK293 Cells | Organophosphorus Compounds - pharmacology | Metal Metabolism, Inborn Errors - drug therapy | Cysteine - metabolism | GABAergic Neurons - metabolism | Calcium Signaling | Disease Models, Animal | Memantine - pharmacology | Neurodegenerative Diseases - pathology | Metal Metabolism, Inborn Errors - pathology | Neurodegenerative Diseases - genetics | GABAergic Neurons - pathology | Neurodegenerative Diseases - metabolism | Animals | Pterins - pharmacology | Mice | Neurons | Physiological aspects | GABA | Aspartate | Brain damage | Calpain | Glutamate | Molybdenum | Metabolism, Inborn errors of | Methyl aspartate | Care and treatment | Cellular signal transduction | Research | Inborn errors of metabolism | Glutamic acid receptors (ionotropic) | Homeostasis | Antagonists | Infants | Calcium influx | Proteins | Neurotoxicity | γ-Aminobutyric acid | Metabolites | Neurodegeneration | Rodents | Children | Urine | Enzymes | N-Methyl-D-aspartic acid receptors | Metabolism | Gephyrin | Memantine | Molecular modelling | Excitotoxicity | Mutation | Alzheimers disease | Brain injury | Apoptosis
Journal Article
Pediatric Research, ISSN 0031-3998, 03/2015, Volume 77, Issue 3, pp. 398 - 405
Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive... 
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | AMIDINOTRANSFERASE AGAT DEFICIENCY | SLC6A8 DEFICIENCY | GAMT DEFICIENCY | LINKED MENTAL-RETARDATION | ARGININE RESTRICTION | PROTON NMR-SPECTROSCOPY | MAGNETIC-RESONANCE | PEDIATRICS | TRANSPORTER DEFICIENCY | INBORN ERROR | Developmental Disabilities - drug therapy | Humans | Movement Disorders - diagnosis | Amidinotransferases - genetics | Language Development Disorders - etiology | Male | Movement Disorders - epidemiology | Amino Acid Metabolism, Inborn Errors - epidemiology | Incidence | Speech Disorders - pathology | Developmental Disabilities - pathology | Amino Acid Metabolism, Inborn Errors - genetics | Language Development Disorders - epidemiology | Brain Diseases, Metabolic, Inborn - pathology | Amino Acid Metabolism, Inborn Errors - pathology | Brain Diseases, Metabolic, Inborn - genetics | Intellectual Disability - epidemiology | Creatine - genetics | Mental Retardation, X-Linked - pathology | Creatine - biosynthesis | Intellectual Disability - pathology | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Developmental Disabilities - epidemiology | Speech Disorders - epidemiology | Utah - epidemiology | Brain Diseases, Metabolic, Inborn - drug therapy | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - drug therapy | Mental Retardation, X-Linked - epidemiology | Language Development Disorders - drug therapy | Speech Disorders - drug therapy | Guanidinoacetate N-Methyltransferase - genetics | Infant | Developmental Disabilities - genetics | Brain Diseases, Metabolic, Inborn - epidemiology | Creatine - blood | Creatine - physiology | Mental Retardation, X-Linked - drug therapy | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Mental Retardation, X-Linked - genetics | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Creatine - deficiency | Female | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Amidinotransferases - deficiency | Magnetic Resonance Spectroscopy - methods | Creatine - urine | Language Development Disorders - genetics | Movement Disorders - pathology | Language Development Disorders - pathology | Speech Disorders - genetics | Intellectual Disability - drug therapy | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Sex Factors | Movement Disorders - drug therapy
Journal Article
Brain, ISSN 0006-8950, 7/2009, Volume 132, Issue 7, pp. 1764 - 1782
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism, striatal lesions are... 
Striatum | Maturation | Metabolism | Brain injury | Neuroradiology | neuroradiology | 3-HYDROXYGLUTARIC ACID | WHITE-MATTER | COA DEHYDROGENASE-DEFICIENCY | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | maturation | brain injury | striatum | MOUSE MODEL | BLOOD-VESSELS | GERMINAL MATRIX | metabolism | ACIDEMIA TYPE-I | TIGHT JUNCTION PROTEINS | ENCEPHALOPATHIC CRISES | Neurological Impairments | Neonates | Brain | Diagnostic Tests | Screening Tests | Disabilities | Patients | Diseases | Brain Hemisphere Functions | Comparative Analysis | Head Injuries | Genetics | Injuries | Symptoms (Individual Disorders) | Age Factors | Follow-Up Studies | Humans | Middle Aged | Child, Preschool | Infant | Brain Diseases, Metabolic, Inborn - diagnosis | Amino Acid Metabolism, Inborn Errors - diagnosis | Atrophy | Young Adult | Amino Acid Metabolism, Inborn Errors - metabolism | Adult | Brain Diseases, Metabolic, Inborn - pathology | Child Development | Retrospective Studies | Amino Acid Metabolism, Inborn Errors - pathology | Child | Corpus Striatum - pathology | Infant, Newborn | Acute Disease | Brain Diseases, Metabolic, Inborn - metabolism | Movement Disorders - pathology | Intellectual Disability - pathology | Basal Ganglia - pathology | Brain Mapping - methods | Disease Progression | Cerebellum - pathology | Magnetic Resonance Imaging | Movement Disorders - etiology | Adolescent | Brain - pathology | Aged | Glutaryl-CoA Dehydrogenase - deficiency
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 01/2017, Volume 12, Issue 1, p. 3
Journal Article
Journal Article
Annual Review of Biochemistry, ISSN 0066-4154, 6/2016, Volume 85, pp. 485 - 514
Radical S -adenosylmethionine (SAM) enzymes catalyze an astonishing array of complex and chemically challenging reactions across all domains of life. Of... 
tRNA modifications | radicals | Elongator | iron-sulfur cluster | adenosylmethionine | viperin | lipoic acid | molybdenum cofactor | Lipoic acid | Molybdenum cofactor | Viperin | TRNA modifications | Iron-sulfur cluster | S-adenosylmethionine | Radicals | IRON-SULFUR PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MITOCHONDRIAL TRANSFER-RNAS | ANTIVIRAL PROTEIN VIPERIN | AMYOTROPHIC-LATERAL-SCLEROSIS | ADENOSYL-L-METHIONINE | LIPOIC ACID BIOSYNTHESIS | HEPATITIS-C VIRUS | PHENYLALANINE TRANSFER-RNA | MOLYBDENUM COFACTOR DEFICIENCY | GENOME-WIDE ASSOCIATION | Diabetes Mellitus, Type 2 - genetics | Humans | Histone Acetyltransferases - genetics | Iron-Sulfur Proteins - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Thioctic Acid - metabolism | Heart Defects, Congenital - genetics | tRNA Methyltransferases - genetics | Heart Defects, Congenital - enzymology | Histone Acetyltransferases - metabolism | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | tRNA Methyltransferases - metabolism | Gene Expression | Metal Metabolism, Inborn Errors - genetics | Neurodegenerative Diseases - pathology | Oxidoreductases - metabolism | Oxidoreductases - genetics | Diabetes Mellitus, Type 2 - enzymology | Heart Defects, Congenital - pathology | Metal Metabolism, Inborn Errors - pathology | Neurodegenerative Diseases - genetics | Nuclear Proteins - metabolism | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Proteins - genetics | Proteins - metabolism | Metal Metabolism, Inborn Errors - enzymology | Iron-Sulfur Proteins - metabolism | Diabetes Mellitus, Type 2 - pathology | Mutation | S-Adenosylmethionine - metabolism | Neurodegenerative Diseases - enzymology | Health aspects | Methionine
Journal Article