Literature DB >> 3116329

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

G T Besley1.   

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Year:  1987        PMID： 3116329     DOI： 10.1007/bf01800034

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  8 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

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.

Authors:  B R Migeon; F Huijing
Journal:  Am J Hum Genet       Date:  1974-05       Impact factor: 11.025

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

Authors:  F Huijing; J Fernandes
Journal:  Am J Hum Genet       Date:  1969-05       Impact factor: 11.025

5.  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

6.  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

7.  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

8.  Amylo-1,6-glucosidase activity in cultured cells: a deficiency in type III glycogenosis with prenatal studies.

Authors:  G T Besley; P T Cohen; M J Faed; J Wolstenholme
Journal:  Prenat Diagn       Date:  1983-01       Impact factor: 3.050
  8 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.  Purification of alpha and beta subunits of phosphorylase-b-kinase in human liver and cardiac muscle by affinity chromatography and immunodetection.

Authors:  T Podskarbi; W Endres; Y S Shin
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Diagnosis of glycogen storage disease.

Authors:  Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

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

Review 5.  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
  5 in total

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