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Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2018, Volume 41, Issue 2, pp. 187 - 196
Molybdenum cofactor deficiency is an autosomal recessive inborn error of metabolism, which results from mutations in genes involved in Moco biosynthesis. Moco... 
Human Genetics | Biochemistry, general | Pediatrics | S -sulfocysteine | Metabolic Diseases | Internal Medicine | Kozak-sequence | Urothione | Molybdenum cofactor | Medicine & Public Health | Moco deficiency | Sulfite oxidase | MOCS1 | cPMP | S-sulfocysteine | MEDICINE, RESEARCH & EXPERIMENTAL | MECHANISM | SULFITE OXIDASE DEFICIENCY | READING FRAMES | IDENTIFICATION | INBORN-ERRORS | GENE | METABOLISM | BIOSYNTHESIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | MUTATIONS | Metal Metabolism, Inborn Errors - metabolism | Genetic Predisposition to Disease | Peptide Fragments - metabolism | Frameshift Mutation | Metal Metabolism, Inborn Errors - genetics | Humans | Child, Preschool | Male | Nuclear Proteins - metabolism | Pteridines - metabolism | Metal Metabolism, Inborn Errors - diet therapy | Diet, Protein-Restricted | Coenzymes - metabolism | Magnetic Resonance Imaging | Metalloproteins - metabolism | Phenotype | Metal Metabolism, Inborn Errors - diagnosis | Age of Onset | HEK293 Cells | Nuclear Proteins - genetics | Child | Peptide Fragments - genetics | Proteins | Physiological aspects | Sulfites | Molybdenum | Analysis | Urine | Phenotypes | Translation | Inborn errors of metabolism | Transcription | Translation initiation | Frameshift mutation | Protein deficiency | Sulfite | Neurodegeneration | Genetic analysis | Translation termination | Children | Mutation | Seizures
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, p. e60869
Journal Article
Journal Article