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15 results
  1. Molybdenum cofactor deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency
    ... MOCODA MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B; MOCODB MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP C; MOCODC Scientific Articles on PubMed PubMed References Bayram E, Topcu Y, Karakaya P, Yis U, ...
  2. MOCOS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocos
    ... PubMed Catalog of Genes and Diseases from OMIM MOLYBDENUM COFACTOR SULFURASE; MOCOS Gene and Variant Databases NCBI Gene ClinVar References Ichida K, Amaya Y, Okamoto K, Nishino T. ...
  3. MOCS2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocs2
    ... PubMed Catalog of Genes and Diseases from OMIM MOLYBDENUM COFACTOR SYNTHESIS GENE 2; MOCS2 Gene and Variant Databases NCBI Gene ClinVar References Leimkuhler S, Charcosset M, Latour P, Dorche C, Kleppe S, ...
  4. MOCS1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocs1
    ... PubMed Catalog of Genes and Diseases from OMIM MOLYBDENUM COFACTOR SYNTHESIS GENE 1; MOCS1 Gene and Variant Databases NCBI Gene ClinVar References Leimkuhler S, Charcosset M, Latour P, Dorche C, Kleppe S, ...
  5. GPHN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gphn
    ... GPHN Gene and Variant Databases NCBI Gene ClinVar References Belaidi AA, Schwarz G. Metal insertion into the molybdenum cofactor: product-substrate channelling demonstrates the functional origin ...
  6. Hypervitaminosis A 
    https://medlineplus.gov/ency/article/000350.htm
    Institute of Medicine (US) Panel on Micronutrients. Dietary Reference Intakes for Vitamin A, Vitamin K, Arsenic, Boron, Chromium, Copper, Iodine, Iron, Manganese, Molybdenum, Nickel, Silicon, Vanadium, and Zinc. Washington, DC: National ...
  7. Seizures | MedlinePlus 
    https://medlineplus.gov/seizures.html
    ... of infancy: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  8. Pyridoxine-Dependent Epilepsy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1486
    ... elevated levels of α-AASA may be present: Molybdenum cofactor deficiency (OMIM 252150 , 252160 , and 615501 ). This ... Mills et al 2012 , Struys et al 2012 ]. Molybdenum cofactor deficiency is caused by biallelic pathogenic variants ...
  9. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency</url><title >Molybdenum cofactor deficiency</title>< ...
  10. Hereditary xanthinuria: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/hereditary-xanthinuria
    ... gene provides instructions for making an enzyme called molybdenum cofactor sulfurase. This enzyme is necessary for the ... R, Hosoya T, Nishino T. Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria ...
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