Literature DB >> 6243933

The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme.

B Lederer, G van de Werve, T de Barsy, H G Hers.   

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Year:  1980        PMID： 6243933     DOI： 10.1016/0006-291x(80)91535-1

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  15 in total

Review 1.  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 2.  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

3.  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

4.  Phosphorylase b kinase deficiency in a boy with glycogenosis affecting both liver and muscle.

Authors:  M Madlom; G T Besley; P T Cohen; V J Marrian
Journal:  Eur J Pediatr       Date:  1989-10       Impact factor: 3.183

5.  I/Lyn mouse phosphorylase kinase deficiency: mutation disrupts expression of the alpha/alpha'-subunit mRNAs.

Authors:  P K Bender; P A Lalley
Journal:  Proc Natl Acad Sci U S A       Date:  1989-12       Impact factor: 11.205

6.  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

7.  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

8.  Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.

Authors:  K Goji; Y Morishita; S Kodama; T Takahashi; T Matsuo
Journal:  Eur J Pediatr       Date:  1985-01       Impact factor: 3.183

Review 9.  Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase.

Authors:  M Elleder; Y S Shin; A Zuntová; P Vojtovic; V Chalupecký
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1993

10.  Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice.

Authors:  J S Chamberlain; P VanTuinen; A A Reeves; B A Philip; C T Caskey
Journal:  Proc Natl Acad Sci U S A       Date:  1987-05       Impact factor: 11.205
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