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Glycogen storage disease, type IX
Known as:
hepatic phosphorylase kinase deficiency
, Gsd Ix
, Phosphorylase B Kinase Deficiency
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Glycogen storage disease usually inherited in an X-linked recessive pattern. It is characterized by a deficiency of hepatic phosphorylase kinase.
National Institutes of Health
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Related topics
Related topics
4 relations
Broader (1)
Glycogen Storage Disease
Glycogen Storage Disease Type VIII
PHKA2 gene
congenital deficiency
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
1993
1993
Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
S. Sanjad
,
R. Kaddoura
,
H. Nazer
,
M. Akhtar
,
N. Sakati
A M A Journal of Diseases of Children
1993
Corpus ID: 11745689
OBJECTIVE To describe two patients with Fanconi's nephropathy secondary to glycogen storage disease and speculate on the possible…
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Highly Cited
1989
Highly Cited
1989
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.
U. Francke
,
B. Darras
,
N. Zander
,
M. Kilimann
American Journal of Human Genetics
1989
Corpus ID: 1180332
Phosphorylase kinase (PHK), the enzyme that activates glycogen phosphorylases in muscle, liver, and other tissues, is composed of…
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1988
1988
Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes.
L. J. Alvarado
,
E. Gasca-Centeno
,
R. Grier
Jornal de Pediatria
1988
Corpus ID: 38814010
1983
1983
Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation.
T. Iwamasa
,
S. Fukuda
,
S. Tokumitsu
,
N. Ninomiya
,
I. Matsuda
,
M. Osame
Experimental and molecular pathology (Print)
1983
Corpus ID: 41240546
1983
1983
Glycogenolysis in liver of phosphorylase kinase-deficient rats during liver perfusion and ischaemia.
G. Lutaya
,
R. Sharma
,
J. Griffiths
Biochemical Journal
1983
Corpus ID: 37882744
Liver glycogen degradation and phosphorylase activity were measured in normal and phosphorylase kinase-deficient (gsd/gsd) rats…
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Highly Cited
1982
Highly Cited
1982
Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance
A. Stevens
,
R. Iles
,
P. Morris
,
J. Griffiths
FEBS Letters
1982
Corpus ID: 1264102
Review
1982
Review
1982
Value of the glucagon test in screening for hepatic glycogen storage disease.
D. Dunger
,
J. Leonard
Archives of Disease in Childhood
1982
Corpus ID: 2330833
The fasting glucagon test of 40 patients with hepatic glycogen storage disease (type I, 13 patients; type Ib, 5 patients; type…
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1980
1980
Metabolic adaptation in phosphorylase kinase deficiency.
Z. Rahim
,
D. Perrett
,
G. Lutaya
,
J. Griffiths
1980
Corpus ID: 83136220
1974
1974
Characterization of the phosphorylase b to a converting activity in skeletal muscle extracts of mice with the phosphorylase b kinase deficiency mutation.
S. R. Gross
,
S. Mayer
Journal of Biological Chemistry
1974
Corpus ID: 41552640
1973
1973
The phosphorylation of troponin B by phosphorylase b kinase in skeletal muscle of mice carrying the phosphorylase b kinase deficiency gene.
S. R. Gross
,
S. Mayer
Biochemical and Biophysical Research…
1973
Corpus ID: 20664550
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