Literature DB >> 3385534

Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.

S Servidei1, L A Metlay, J Chodosh, S DiMauro.   

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Year:  1988        PMID: 3385534     DOI: 10.1016/s0022-3476(88)80535-3

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


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  14 in total

1.  Glycogen storage disease type IIa.

Authors:  V Gharpure; K Raghavan; M Mehta; A Kalgutkar
Journal:  Indian J Pediatr       Date:  1996 Mar-Apr       Impact factor: 1.967

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.  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

6.  Diagnosis of glycogen storage disease.

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

7.  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

Review 8.  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

9.  Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients.

Authors:  P Labrune; P Huguet; M Odievre
Journal:  Pediatr Cardiol       Date:  1991-07       Impact factor: 1.655

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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