TY - JOUR
T1 - X-linked Glycogen Storage Disease
T2 - A Cause of Hypotonia, Hyperuricemia, and Growth Retardation
AU - Keating, James P.
AU - White, Neil H.
AU - Brown, Barbara I.
AU - Dimauro, Salvatore
PY - 1985/6
Y1 - 1985/6
N2 - Seven male members of one family had a form of glycogen storage disease that was inherited in an X-linked recessive pattern. The clinical manifestations included hepatomegaly, delay in growth and sexual maturation, muscular weakness in childhood, and gouty arthritis. The cause of the glycogen accumulation did not appear to be a deficiency of glucose 6-phosphatase, debrancher enzyme, phosphorylase, or phosphorylase kinase. Prognosis appeared to be good although there was significant disability during childhood.
AB - Seven male members of one family had a form of glycogen storage disease that was inherited in an X-linked recessive pattern. The clinical manifestations included hepatomegaly, delay in growth and sexual maturation, muscular weakness in childhood, and gouty arthritis. The cause of the glycogen accumulation did not appear to be a deficiency of glucose 6-phosphatase, debrancher enzyme, phosphorylase, or phosphorylase kinase. Prognosis appeared to be good although there was significant disability during childhood.
UR - http://www.scopus.com/inward/record.url?scp=0021922727&partnerID=8YFLogxK
U2 - 10.1001/archpedi.1985.02140080079037
DO - 10.1001/archpedi.1985.02140080079037
M3 - Article
C2 - 3859203
AN - SCOPUS:0021922727
VL - 139
SP - 609
EP - 613
JO - American Journal of Diseases of Children
JF - American Journal of Diseases of Children
SN - 0002-922X
IS - 6
ER -