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Citations to this article

Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver
George Hug, … , William K. Schubert, Gail Chuck
George Hug, … , William K. Schubert, Gail Chuck
Published April 1, 1969
Citation Information: J Clin Invest. 1969;48(4):704-715. https://doi.org/10.1172/JCI106028.
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Research Article

Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver

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Abstract

Low activity of phosphorylase and increased concentration of glycogen were found in liver tissue from five children with asymptomatic hepatomegaly. In vitro activation of liver phosphorylase in these patients occurred at the rate of 10% or less of normal. Elimination of the defect by the addition of kinase that activates phosphorylase demonstrated the integrity of the phosphorylase enzyme and the deficient activity of dephophophosphorylase kinase.

Authors

George Hug, William K. Schubert, Gail Chuck

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Total citations by year

Year: 2021 2020 2016 2012 2011 2008 2007 1998 1996 1993 1990 1988 1987 1986 1985 1984 1980 1979 1978 1977 1975 1974 1973 1972 1971 1970 Total
Citations: 1 2 1 1 1 1 1 1 1 1 8 3 1 3 2 1 2 1 2 1 3 1 5 1 4 6 55
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article (55)

Title and authors Publication Year
Dosage Compensation in Females with X-Linked Metabolic Disorders
P Juchniewicz, E Piotrowska, A Kloska, M Podlacha, J Mantej, G Węgrzyn, S Tukaj, J Jakóbkiewicz-Banecka
International journal of molecular sciences 2021
Liver histology in children with glycogen storage disorders type VI and IX
I Degrassi, M Deheragoda, D Creegen, H Mundy, A Mustafa, R Vara, N Hadzic
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2020
Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines
AA Baranov, LS Namazova-Baranova, AN Surkov, OS Gundobina, EA Vishneva, TV Margieva, ND Vashakmadze, LR Selimzyanova
2020
Inborn Metabolic Diseases
JM Saudubray, MR Baumgartner, J Walter
Inborn Metabolic Diseases 2016
Swaiman's Pediatric Neurology
GM Enns, TM Cowan, O Klein, S Packman
Swaiman's Pediatric Neurology 2012
Advances in Clinical Chemistry
M Mahler
Advances in Clinical Chemistry Volume 54 2011
Reply
J Bommer, T Heinrich, H Heidt, V Hafner, E Jenetzky, I Walter-Sack, G Mikus
Nephrology Dialysis Transplantation 2008
Storage Diseases
P Maertens, PR Dyken
Textbook of Clinical Neurology 2007
Principles of Perinatal—Neonatal Metabolism
RM Cowett
1998
Genetic deficiencies of the glycogen phosphorylase system
J Hendrickx, PJ Willems
Human Genetics 1996
Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase
M Elleder, YS Shin, A Zuntová, P Vojtovič, V Chalupecký
Virchows Archiv A Pathological Anatomy and Histopathology 1993
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: A longitudinal study of 41 patients
PJ Willems, WJ Gerver, R Berger, J Fernandes
European Journal of Pediatrics 1990
Muscle glycogenosis
SW Moses
Journal of Inherited Metabolic Disease 1990
Adult phosphorylaseb kinase deficiency
PR Clemens, M Yamamoto, AG Engel
Annals of Neurology 1990
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
P Bührdel, HJ Böhme, L Didt
European Journal of Pediatrics 1990
Phosphorylase b kinase deficiency in man: a review
IE Berg, R Berger
Journal of Inherited Metabolic Disease 1990
Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria
RA Harkness, RJ Pollitt, GM Addison
1990
Biochemical and clinical observations in four patients with fructose-1,6-diphosphatase deficiency
P Bührdel, , L Didt
European Journal of Pediatrics 1990
Phosphorylase b kinase deficiency in man: a review
IE van den Berg, R Berger
Journal of Inherited Metabolic Disease 1990
Starvation of phosphorylase kinase deficient rats is accompanied by partial hepatic glycogen depletion
PC Calder, R Geddes
Biochemical Journal 1988
Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency
S Servidel, LA Metlay, J Chodosh, S DiMauro
The Journal of Pediatrics 1988
Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes
LJ Alvarado, E Gasca-Centeno, RE Grier
The Journal of Pediatrics 1988
Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX
N Bashan, R Potashnik, T Ehrlich, SW Moses
Journal of Inherited Metabolic Disease 1987
An hepatic metabolic profile in sudden infant death (SIDS)
GF Vawter, CA McGraw, G Hug, HP Kozakewich, J McNaulty, F Mandell
Forensic Science International 1986
Clinical and laboratory observations in a child with hepatic phosphorylase kinase deficiency
M Tuchman, BI Brown, BA Burke, RA Ulstrom
Metabolism 1986
Methodology Ecological, Genetic, and Nutritional Effects on Growth
F Falkner, JM Tanner
1986
Progress in Medicinal Chemistry
JR Brown, SH Imam
Progress in Medicinal Chemistry 1985
Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: A new type of glycogen storage disease
Y Eishi, T Takemura, R Sone, H Yamamura, K Narisawa, R Inchinohasama, M Tanaka, S Hatakeyama
Human Pathology 1985
Rapid Prenatal Diagnosis of Glycogen-Storage Disease Type II by Electron Microscopy of Uncultured Amniotic-Fluid Cells
G Hug, S Soukup, M Ryan, G Chuck
New England Journal of Medicine 1984
The autosomal form of phosphorylase kinase defficiency in man: Reduced activity of the muscle enzyme
B Lederer, G de Werve, T Barsy, HG Hers
Biochemical and Biophysical Research Communications 1980
Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance
V Ionasescu, G Hug, C Hoppel
Journal of neurology, neurosurgery, and psychiatry 1980
Inherited Disorders of Carbohydrate Metabolism
D Burman, JB Holton, CA Pennock
1979
Pleiotropic drug resistance in cystic fibrosis fibroblasts: Increased resistance to cyclic AMP
J Epstein, JL Breslow, MJ Fitzsimmons, MM Vayo
Somatic Cell Genetics 1978
Principles and Prenatal Growth
F Falkner, JM Tanner
1978
Cyclic amp-induced cytolysis in S49 cells: selection of an unresponsive “deathless” mutant
I Lemaire, P Coffino
Cell 1977
Animal models of glycogen storage conditions. Their relation to human disease
SR Gross
The Western journal of medicine 1975
Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency
B Lederer, FV Hoof, GV Berghe, H Hers
Biochemical Journal 1975
Teratology
CL Berry, DE Poswillo
Teratology 1975
The glycogen storage diseases
BE Ryman
Journal of clinical pathology. Supplement (Royal College of Pathologists) 1974
GENETIC DEFECTS OF GLYCOGEN METABOLISM AND ITS CONTROL
F Huijing
Annals of the New York Academy of Sciences 1973
Glycogen phosphorylase kinase deficiency: A survey of enzymes in phosphorylase activating system
Y Morishita, K Nishiyama, H Yamamura, S Kodama, H Negishi, M Matsuo, T Matsuo, Y Nishizuka
Biochemical and Biophysical Research Communications 1973
Hypoglycemia in infancy and childhood. Part II
AS Pagliara, IE Karl, M Haymond, DM Kipnis
The Journal of Pediatrics 1973
Low molecular weight glycogen as a cause of generalized glycogen storage disease
W Krivit, HL Sharp, JC Lee, J Larner, R Edstrom
The American Journal of Medicine 1973
Glycogen storage disease type IX: Benign glycogenosis of liver and hepatic phosphorylase kinase deficiency
RN Schimke, RM Zakheim, RC Corder, G Hug
The Journal of Pediatrics 1973
Alkaline Phosphatase
MM Kaplan
New England Journal of Medicine 1972
CHOLECYSTOGRAPHY AND RENAL FAILURE
TJ Daymond
The Lancet 1971
HEPATIC GLYCOGENOSIS
F Huijing
The Lancet 1971
INFECTION IN MAPLE-SYRUP-URINE DISEASE
RJ Harris
The Lancet 1971
THE HEPATIC GLYCOGENOSES
G Hug
The Lancet 1971
Phosphorylase kinase deficiency in mice
F Huijing
FEBS Letters 1970
Liver glycogenosis and phosphorylase kinase deficiency
F Huijing, J Fernandes
The American Journal of Human Genetics 1970
Type VI glycogenosis: Biochemical demonstration of liver phosphorylase deficiency
G Hug, WK Schubert
Biochemical and Biophysical Research Communications 1970
Loss of cyclic 3′5′-AMP dependent kinase and reduction of phosphorylase kinase in skeletal muscle of a girl with deactivated phosphorylase and glycogenosis of liver and muscle
G Hug, WK Schubert, G Chuck
Biochemical and Biophysical Research Communications 1970
Phosphorylase kinase deficiency
F Huijing
Biochemical Genetics 1970
The histochemical evaluation of the glycogen storage diseases. A review of techniques and their limitations
BD Lake
The Histochemical Journal 1970

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