Browsing by Subject "Bone"

Now showing items 1-2 of 2

    • Prepubertal Adiposity, Vitamin D Status, and Insulin Resistance 
      Cediel, Gustavo; Corvalán Aguilar, Camila; López de Romaña, Daniel; Mericq, Verónica; Uauy Dagach-Imbarack, Ricardo (Amer Acad Pediatrics, 2016)
      OBJECTIVE: To evaluate the following from prepuberty to the puberty-onset: (1) changes in serum 25-hydroxyvitamin-D (25[OH]D), adiposity, and insulin resistance (IR); (2) the effect of prepubertal adiposity on serum 25(OH)D ...
    • Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal ... 
      Lacassie, Yves; Johnson, Britt; Lay-Son, Guillermo; Quintana, Rita; King, Andrew; Cortés, Fanny; Álvarez, Cecilia; Gómez, Ricardo; Vargas, Alfonso; Chalew, Stuart; King, Alejandra; Guardia, Sylvia; Sorensen, Ricardo U.; Aradhya, Swaroop (Wiley, 2020)
      Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal ...