Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Caroline T. Carreras"'
Autor:
Kate Hoyt, Christopher Lumpkin, Laurie M. Brown, Sara D. Siegel, Margaret A. Chen, David A. Weinstein, Michelle M. Corrado, Rixt M. van der Ende, Terry G J Derks, Catherine E. Correia, Theresa B. Flanagan, Caroline T. Carreras
Publikováno v:
Journal of Inherited Metabolic Disease, 38(3), 489-493. SPRINGER
INTRODUCTION: Ketone formation is a normal response when hypoglycemia occurs. Since the majority of children with recurrent hypoglycemia cannot be diagnosed with a known endocrine or metabolic disorder on a critical sample, ketotic hypoglycemia has b
Publikováno v:
The Journal of Pediatrics. 159:442-446
Glycogen storage disease type I (GSD I) is an autosomal recessive inborn error of metabolism caused by defects in the glucose-6-phosphatase complex. Deficient activity of the glucose-6-phosphatase-α (G6Pase) catalytic unit characterizes glycogen sto