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  1. Molybdenum Cofactor Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK575630
    ... Search term GeneReviews Advanced Search Help < Prev Next > Molybdenum Cofactor Deficiency Albert Misko , MD, PhD, Karishma Mahtani , ... or MOCS3. Differential Diagnosis Early-Onset or Severe Molybdenum Cofactor Deficiency Table 4. Genes of Interest in ...
  2. Molybdenum cofactor deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency
    ... deficiency. Learn more about the genes associated with Molybdenum cofactor deficiency GPHN MOCS1 MOCS2 Inheritance Molybdenum cofactor ...
  3. GPHN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gphn
    ... by neurotransmitters. Health Conditions Related to Genetic Changes Molybdenum cofactor deficiency GPHN gene mutations cause a disorder called molybdenum cofactor deficiency. This disorder is characterized by seizures ...
  4. MOCS1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocs1
    ... not metabolized. Health Conditions Related to Genetic Changes Molybdenum cofactor deficiency MOCS1 gene mutations cause a disorder called molybdenum cofactor deficiency. This disorder is characterized by seizures ...
  5. MOCS2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocs2
    ... not metabolized. Health Conditions Related to Genetic Changes Molybdenum cofactor deficiency MOCS2 gene mutations cause a disorder called molybdenum cofactor deficiency. This disorder is characterized by seizures ...
  6. Pyridoxine-Dependent Epilepsy – ALDH7A1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1486
    ... it can also be elevated in individuals with molybdenum cofactor deficiency and isolated sulfate oxidase deficiency (see ... Szs are tonic & often asymmetric. MOCS2 MOSC2 -related molybdenum cofactor deficiency 2 When present, ↑ α-AASA is ...
  7. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Molybdenum cofactor deficiency</name><ghr-page >https://medlineplus.gov/ ...
  8. MOCOS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mocos
    ... gene provides instructions for making an enzyme called molybdenum cofactor sulfurase. This enzyme is necessary for the ... in the breakdown (metabolism) of many different compounds. Molybdenum cofactor sulfurase carries out a chemical reaction that ...
  9. Isolated Sulfite Oxidase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK453433
    ... DiffDx Disorder Overlapping w/ISOD Distinguishing from ISOD Molybdenum cofactor deficiency MOCS1 MOCS2 MOCS3 GPHN AR Intractable ... domains: an N-terminal heme domain, a central molybdenum domain, and a C-terminal domain. Sulfite oxidase ...
  10. 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>< ...
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