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11 results
  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. 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 ...
  3. 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 ...
  4. 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 : ...
  5. SPTBN4 Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK559435
    ... CDG. Lam C, Krasnewich DM. GeneReviews(®). 1993 Review Molybdenum Cofactor Deficiency. [GeneReviews(®). 1993] Review Molybdenum Cofactor Deficiency. Misko A, Mahtani K, Abbott J, ...
  6. ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547304
    ... Al-Hassnan ZN, Kaya N. GeneReviews(®). 1993 Review Molybdenum Cofactor Deficiency. [GeneReviews(®). 1993] Review Molybdenum Cofactor Deficiency. Misko A, Mahtani K, Abbott J, ...
  7. 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; ...
  8. 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/ ...
  9. Excluded Studies - Cerebral palsy in under 25s: assessment and management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK533212
    ... Hamano,S., Mochizuki,H., Ichida,K., Ida,H., Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for ... E., Rebelo, F., Teles, J., Wogalter, M. S., Safety sign comprehension by students, adult workers and disabled ...
  10. xmlmineralsdefinitions.xml 
    https://medlineplus.gov/xml/mineralsdefinitions.xml
    ... chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.</definition></term-group><term-group >< ...
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