Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mei-Chyn Chao"'
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 33(11)
Objectives Holocarboxylase synthetase deficiency (HCSD) (OMIM #253270) is a rare inborn error of metabolism with an estimated annual incidence of 1 in 200,000 people. Typical manifestations of HCSD include eczema, alopecia, lactic acidosis and hypera
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 30(6)
BACKGROUND Central precocious puberty (CPP), predominant in girls, is defined by early development of secondary sexual characteristics driven by the early secretion of hypothalamic gonadotropin releasing hormone (GnRH) and subsequent gonadotropin. Re
Publikováno v:
Molecular genetics and metabolism. 97(1)
CYP21A2 mutations resulting from microconversions of the CYP21A1P sequence in congenital adrenal hyperplasia (CAH) commonly appear in all populations. However, it has not often been described as being due to the gene founder effect. Herein, we invest
Publikováno v:
Diabetes research and clinical practice. 54(1)
Persistent humoral autoimmunity to the enzyme glutamic acid decarboxylase (GAD) has been described in a substantial proportion of patients with type 1 diabetes mellitus. Higher prevalence of GAD antibody in diabetes patients using a new radioligand-b