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  1. Creatine Deficiency Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3794
    ... but due to skewed X-inactivation a normal creatine uptake does not rule out CRTR deficiency. References Literature Cited Akiyama T, Osaka H, Shimbo H, ...
  2. Arginine:glycine amidinotransferase deficiency | MedlinePlus Genetics 
    https://medlineplus.gov/...nineglycine-amidinotransferase-deficiency
    ... Catalog of Genes and Diseases from OMIM CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 Scientific Articles on PubMed PubMed References Beard E, Braissant O. Synthesis and transport of ...
  3. X-linked creatine deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency
    ... Catalog of Genes and Diseases from OMIM CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Scientific Articles on PubMed PubMed References Beard E, Braissant O. Synthesis and transport of ...
  4. SLC6A8 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/slc6a8
    ... from OMIM SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8; SLC6A8 Gene and Variant Databases NCBI Gene ClinVar References Beard E, Braissant O. Synthesis and transport of ...
  5. Isolated hyperCKemia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/isolated-hyperckemia
    ... NORD) Catalog of Genes and Diseases from OMIM CREATINE PHOSPHOKINASE, ELEVATED SERUM Scientific Articles on PubMed PubMed References Aboumousa A, Hoogendijk J, Charlton R, Barresi R, ...
  6. Guanidinoacetate methyltransferase deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/...idinoacetate-methyltransferase-deficiency
    ... Catalog of Genes and Diseases from OMIM CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 Scientific Articles on PubMed PubMed References Almeida LS, Vilarinho L, Darmin PS, Rosenberg EH, ...
  7. References - Suspected neurological conditions - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK542063
    ... RT, Hassler CR, Blasco PA et al. Are reference limits for serum creatine kinase valid in detection of the carrier state ... Childhood stroke: Results of 130 children from a reference center in central anatolia, ... MW. Serum creatine kinase and pyruvate kinase in Duchenne muscular dystrophy ...
  8. Creatine Kinase: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/creatine-kinase
    ... about laboratory tests, reference ranges, and understanding results . References Aujla RS, Patel R. Creatine Phosphokinase. [Updated 2022 Oct 24; cited 2023 Mar ...
  9. Part 2 – Children aged under 16 – signs and symptoms and investigative tests - Suspected neurological conditions - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK542047
    ... who present with motor developmental delay, is a creatine kinase (CK) test accurate in identifying whether muscular dystrophy is present as compared to no test (and as indicated by the reference standard, diagnosis at follow-up)? The aim of ...
  10. NLM Digital Collections - Index-catalogue of the Library of the Surgeon-General's Office, United States Army. Authors ... 
    Publication: Washington : G.P.O., 1880-1932
    resource.nlm.nih.gov/8104689X44
    ... lxxxix, 980. ----- The significance of the metabolism of creatine and Creatinine with special reference to nephritis. Ibid., 1917, xci, 127.—O'Hare ( ... 163-176.-Towies (C.) Sc VÖegt- lin (C). Creatine and Creatinine metabolism in ... inanition with especial reference to the func- tion ofthe liver. J. Biol. ...
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