Literature DB >> 4518931

Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency.

R N Schimke, R M Zakheim, R C Corder, G Hug.   

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Year:  1973        PMID： 4518931     DOI： 10.1016/s0022-3476(73)80544-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  12 in total

1.  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 2.  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 3.  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 4.  Genetic deficiencies of the glycogen phosphorylase system.

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

5.  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

6.  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

Review 7.  Glycogen metabolism and glycogen storage disorders.

Authors:  Shibani Kanungo; Kimberly Wells; Taylor Tribett; Areeg El-Gharbawy
Journal:  Ann Transl Med       Date:  2018-12

8.  Glycogen phosphorylase b kinase deficiency in three siblings.

Authors:  R G Gray; D Kumar; A E Whitfield
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

9.  Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

Authors:  J Hendrickx; P Lee; J P Keating; D Carton; I B Sardharwalla; M Tuchman; C Baussan; P J Willems
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

10.  Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.

Authors:  U Francke; B T Darras; N F Zander; M W Kilimann
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025
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