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15 results
  1. Permanent Neonatal Diabetes Mellitus - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1447
    ... responsible for glucose-stimulated insulin secretion [ Matschinsky 2002 ]. Abnormal gene product. The reported pathogenic missense variants alter the kinetics of the enzyme: the glucose S 0.5 ...
  2. Glucose Transporter Type 1 Deficiency Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1430
    ... Glut1 DS with hypoglycorrhachia and "normal" erythrocyte glucose uptake [ Wang et al 2008 , Fujii et al 2011 ]. Furthermore, this pathogenic missense variant may be a kinetic variant, functioning normally at 4° C (the temperature ...
  3. Spinocerebellar Ataxia Type 2 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1275
    ... More than 50% of affected individuals developed a kinetic or postural tremor, decreased muscle tone, decreased tendon reflexes, and abnormal eye movements with slowed saccades progressing to supranuclear ...
  4. Excluded Studies - Core Needle and Open Surgical Biopsy for Diagnosis of Breast Lesions - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK246888
    ... et al. Diagnostic imaging and biopsy pathways following abnormal screen-film and digital screening ... of digital mammography uptake on downstream breast-related care among older women. ...
  5. List of Excluded Studies - Safety of Vaccines Used for Routine Immunization in the United States: An Update - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK572039
    ... V, Mitsioni A, et al. Safety, immunogenicity and kinetics of immune response to 7-valent pneumococcal conjugate ... V, Dedepsidis E, Kyriakopoulou Z, et al. Growth kinetic analysis of bi-recombinant poliovirus vaccine strains. Virus ...
  6. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... Valle D. A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation ...
  7. Episodic Ataxia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK25442
    ... is impaired by altering the channel's gating kinetics, voltage dependence, assembly, and trafficking [ Imbrici et al ... loop, control the K + selectivity of the channel. Abnormal gene product. The molecular mechanisms underlying episodic ataxia ...
  8. List of Excluded Studies - Diagnosis and Management of Metastatic Malignant Disease of Unknown Primary Origin - NCBI ... 
    https://www.ncbi.nlm.nih.gov/books/NBK82161
    ... RA, Karczmar GS. Pure ductal carcinoma in situ: Kinetic and morphologic MR characteristics compared with mammographic appearance ... MRI: a prospective clinical trial using a combined kinetic and morphologic analysis. AJR. American Journal of Roentgenology. ...
  9. Excluded Studies - Screening for Prediabetes and Type 2 Diabetes Mellitus: An Evidence Review for the U.S. Preventive ... 
    https://www.ncbi.nlm.nih.gov/books/NBK574056
    ... niacin on triglyceride-rich lipoprotein apolipoprotein B-48 kinetics in statin-treated patients with type 2 diabetes. ... Effect of sitagliptin therapy on triglyceride-rich lipoprotein kinetics in patients with type 2 diabetes. Diabetes Obes ...
  10. Detailed Methods - Screening for Breast Cancer - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK343822
    ... a multiparametric model combining a selection of morphological, kinetic, and spatiotemporal features. Med Phys. 2012; 39 (4): ... SC, Soman S, Libfeld E, et al. Textural kinetics: a novel dynamic contrast-enhanced (DCE)-MRI feature ...
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