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Results 1 - 10 of 158 for Deficiency disease
  1. SERPINA1 gene 
    ... H, Mahadeva R, Lomas DA. Alpha(1)-antitrypsin deficiency, liver disease and emphysema. Int J Biochem Cell Biol. 2003 ... Trapnell BC. Molecular pathogenesis of alpha-1-antitrypsin deficiency-associated liver disease: a meeting review. Hepatology. 2007 May;45(5): ...
    https://medlineplus.gov/genetics/gene/serpina1 - Genetics
  2. NAGA gene 
    ... alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in ... Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). J Hum Genet. 2004;49(1):1-8. ...
    https://medlineplus.gov/genetics/gene/naga - Genetics
  3. GAA gene 
    ... A, Plotz PH, Raben N. Acid alpha-glucosidase deficiency (Pompe disease). Curr Neurol Neurosci Rep. 2007 Jan;7(1): ...
    https://medlineplus.gov/genetics/gene/gaa - Genetics
  4. PYGM gene 
    ... Serratrice G, Pouget J. Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of ...
    https://medlineplus.gov/genetics/gene/pygm - Genetics
  5. ACAT1 gene 
    ... JO. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways. Orphanet J Rare Dis. 2020 Apr ...
    https://medlineplus.gov/genetics/gene/acat1 - Genetics
  6. ASAH1 gene 
    ... CR. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. ...
    https://medlineplus.gov/genetics/gene/asah1 - Genetics
  7. GCH1 gene 
    ... Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5; DYT 5). Chang Gung Med J. ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  8. PSAP gene 
    ... DUE TO SAPOSIN C DEFICIENCY; GDSAPC COMBINED SAPOSIN DEFICIENCY; PSAPD KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY; KRBSAPA NCBI Gene ClinVar Al-Hassnan ZN, Al ...
    https://medlineplus.gov/genetics/gene/psap - Genetics
  9. COQ6 gene 
    ... cause a disorder known as primary coenzyme Q10 deficiency. This rare disease usually becomes apparent in infancy or early childhood, ... that can be affected by primary coenzyme Q10 deficiency. More About This Health Condition ... MA, Cerqua C, Zordan R, Trevisson E, Salviati L. Coenzyme Q biosynthesis in health and disease. Biochim Biophys Acta. 2016 Aug;1857(8):1079- ...
    https://medlineplus.gov/genetics/gene/coq6 - Genetics
  10. COQ2 gene 
    ... cause a disorder known as primary coenzyme Q10 deficiency. This rare disease usually becomes apparent in infancy or early childhood, ... that can be affected by primary coenzyme Q10 deficiency. More About This Health Condition ... C, Zordan R, Trevisson E, Salviati L. Coenzyme Q biosynthesis in health and disease. Biochim Biophys Acta. 2016 Aug;1857(8):1079- ...
    https://medlineplus.gov/genetics/gene/coq2 - Genetics
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