Literature DB >> 5306139

X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.

F Huijing, J Fernandes.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1969        PMID: 5306139      PMCID: PMC1706412     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  11 in total

1.  PURIFICATION AND PROPERTIES OF RABBIT SKELETAL MUSCLE PHOSPHORYLASE B KINASE.

Authors:  E G KREBS; D S LOVE; G E BRATVOLD; K A TRAYSER; W L MEYER; E H FISCHER
Journal:  Biochemistry       Date:  1964-08       Impact factor: 3.162

2.  Low leukocyte phosphorylase in hepatic phosphorylase-deficient glycogen storage disease.

Authors:  H E WILLIAMS; J B FIELD
Journal:  J Clin Invest       Date:  1961-10       Impact factor: 14.808

3.  Intestinal glucose-6-phosphatase in control subjects and relatives of a patient with glycogen storage disease.

Authors:  H E WILLIAMS; P L JOHNSON; L F FENSTER; L LASTER; J B FIELD
Journal:  Metabolism       Date:  1963-03       Impact factor: 8.694

4.  Phosphorylase activity in leucocytes from patients with glycogen-storages disease.

Authors:  W C HULSMANN; T L OEI
Journal:  Lancet       Date:  1961-09-09       Impact factor: 79.321

5.  Sex chromatin and gene action in the mammalian X-chromosome.

Authors:  M F LYON
Journal:  Am J Hum Genet       Date:  1962-06       Impact factor: 11.025

6.  Debrancher enzyme activity in blood cells of families with type III glycogen storage disease. A method for diagnosis of heterozygotes.

Authors:  R Chayoth; S W Moses; K Steinitz
Journal:  Isr J Med Sci       Date:  1967 May-Jun

7.  Amylo-1,6-glucosidase activity and glycogen content of the erythrocytes of normal subjects, patients with glycogen storage disease and heterozygotes.

Authors:  F Van Hoof
Journal:  Eur J Biochem       Date:  1967-10

8.  The activity of the debranching-enzyme system in leucocytes. A genetic study of glycogen storage disease type 3.

Authors:  F Huijing; H J Obbink; S Van Creveld
Journal:  Acta Genet Stat Med       Date:  1968

9.  Phosphorylase b kinase inheritance in mice.

Authors:  J B Lyon; J Porter; M Robertson
Journal:  Science       Date:  1967-03-24       Impact factor: 47.728

10.  Hepatic phosphorylase defect. Studies on peripheral blood.

Authors:  P G Wallis; J B Sidbury; R C Harris
Journal:  Am J Dis Child       Date:  1966-03
View more
  27 in total

Review 1.  Animal models of glycogen storage conditions. Their relation to human disease.

Authors:  S R Gross
Journal:  West J Med       Date:  1975-09

2.  cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

Authors:  J J Davidson; T Ozçelik; C Hamacher; P J Willems; U Francke; M W Kilimann
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

Review 3.  Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.

Authors:  M W Kilimann
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 4.  Phosphorylase b kinase deficiency in man: a review.

Authors:  I E Van den Berg; R Berger
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

Review 5.  Genetic deficiencies of the glycogen phosphorylase system.

Authors:  J Hendrickx; P J Willems
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

6.  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.

Authors:  B Lederer; F Van Hoof; G Van den Berghe; H Hers
Journal:  Biochem J       Date:  1975-04       Impact factor: 3.857

7.  Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes.

Authors:  H D Bakker; J A Taminiau; J E van den Berg; R Berger
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

8.  The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.

Authors:  P J Willems; W J Gerver; R Berger; J Fernandes
Journal:  Eur J Pediatr       Date:  1990-01       Impact factor: 3.183

9.  Phosphorylase b kinase deficiency in glycogenosis type VIII: differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay.

Authors:  G T Besley
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

10.  Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX.

Authors:  N Bashan; R Potashnik; T Ehrlich; S W Moses
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.