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17 results
  1. Molybdenum Cofactor Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK575630
    ... Gephyrin GPHN database GPHN GPHN MOCS1 6p21 ... Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. Isolated Sulfite Oxidase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK453433
    ... of the sulfite oxidase dimer; and (3) defective molybdenum cofactor binding [ Karakas & Kisker ... References Literature Cited Basheer SN, Waters PJ, Lam CW, ...
  3. 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 ...
  4. 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 ...
  5. 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 ...
  6. 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>< ...
  7. PNPO Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK581452
    ... dependent epilepsy – ALDH7A1 , and sulfocysteine is indicative of molybdenum cofactor deficiency or isolated sulfite oxidase deficiency ). There ... Szs are tonic & often asymmetric. MOCS2 MOSC2 -related molybdenum cofactor deficiency 2 When present, ↑ AASA is secondary ...
  8. Hereditary Hyperekplexia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1260
    ... ID, ataxia, spasticity) Microcephaly CTNNB1 Neurodevelopmental Disorder GPHN Molybdenum cofactor deficiency, complementation group C AR Intractable seizures ...
  9. CLPB Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK396257
    ... in neonates; affected persons improve over time. GPHN Molybdenum cofactor deficiency, complementation group C (See Molybdenum Cofactor Deficiency .) AR 3-HIVA = 3-hydroxyisovaleric acid; ...
  10. PLPBP Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK589231
    ... Szs are tonic & often asymmetric. MOCS2 MOSC2 -related molybdenum cofactor deficiency AR When present, ↑ α-AASA is ... with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. Pediatrics. 2012;130:e1716-9. [ PubMed : ...
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