- ... 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, ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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, ...
- ... 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, ...
- ... 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 ...
- ... about laboratory tests, reference ranges, and understanding results . References Aujla RS, Patel R. Creatine Phosphokinase. [Updated 2022 Oct 24; cited 2023 Mar ...
- ... 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 ...
- ... findings A wide range of high resting serum creatine kinase [CK] activity. Mean values frequently exceed 1,000 IU/L (normal reference values: <200 IU/L). Cycle and walking tests ...
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