Literature DB >> 8051930

Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.

Y S Shin1, E Plöchl, T Podskarbi, W Muss, P Pilz, R Puttinger.   

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Year:  1994        PMID： 8051930     DOI： 10.1007/bf00735424

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


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  9 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

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

6.  Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase.

Authors:  M J Danon; S Carpenter; J R Manaligod; L H Schliselfeld
Journal:  Neurology       Date:  1981-10       Impact factor: 9.910

7.  A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.

Authors:  K Mizuta; E Hashimoto; A Tsutou; Y Eishi; T Takemura; K Narisawa; H Yamamura
Journal:  Biochem Biophys Res Commun       Date:  1984-03-15       Impact factor: 3.575

Review 8.  Adult phosphorylase b kinase deficiency.

Authors:  P R Clemens; M Yamamoto; A G Engel
Journal:  Ann Neurol       Date:  1990-10       Impact factor: 10.422

9.  Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.

Authors:  Y Ohtani; I Matsuda; T Iwamasa; H Tamari; Y Origuchi; T Miike
Journal:  Neurology       Date:  1982-08       Impact factor: 9.910
  9 in total
  1 in total

1.  Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).

Authors:  M Wehner; M W Kilimann
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132
  1 in total

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