Literature DB >> 6962066

Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance.

O Søvik, T deBarsy, B Maehle.   

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Year:  1982        PMID： 6962066     DOI： 10.1007/BF01377363

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  4 in total

1.  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

Review 2.  Disorders of glycogen metabolism.

Authors:  R F Mahler
Journal:  Clin Endocrinol Metab       Date:  1976-11

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

Authors:  B Lederer; G van de Werve; T de Barsy; H G Hers
Journal:  Biochem Biophys Res Commun       Date:  1980-01-15       Impact factor: 3.575

4.  Glycogenosis due to liver and muscle phosphorylase kinase deficiency.

Authors:  N Bashan; T C Iancu; A Lerner; D Fraser; R Potashnik; S W Moses
Journal:  Pediatr Res       Date:  1981-04       Impact factor: 3.756
  4 in total
  5 in total

Review 1.  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

2.  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

Review 3.  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

Review 4.  Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.

Authors:  Buthainah Albash; Faiqa Imtiaz; Hamad Al-Zaidan; Hadeel Al-Manea; Mohammed Banemai; R Allam; Ali Al-Suheel; Mohammed Al-Owain
Journal:  Eur J Pediatr       Date:  2013-12-11       Impact factor: 3.183

5.  A Mouse Model of Glycogen Storage Disease Type IX-Beta: A Role for Phkb in Glycogenolysis.

Authors:  Charles J Arends; Lane H Wilson; Ana Estrella; Oh Sung Kwon; David A Weinstein; Young Mok Lee
Journal:  Int J Mol Sci       Date:  2022-09-01       Impact factor: 6.208
  5 in total

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