Literature DB >> 3116330

Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX.

N Bashan1, R Potashnik, T Ehrlich, S W Moses.   

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Year:  1987        PMID： 3116330     DOI： 10.1007/bf01800035

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


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  19 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.  The effect of glucose and of a treatment by glucocorticoids on the inactivation in vitro of liver glycogen phosphorylase.

Authors:  W Stalmans; H De Wulf; B Lederer; H G Hers
Journal:  Eur J Biochem       Date:  1970-07

3.  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

4.  Glycogen-storage disease Type VIa: low phosphorylase kinase activity caused by a low enzyme-substrate affinity.

Authors:  F Huijing
Journal:  Biochim Biophys Acta       Date:  1970-04-22

5.  A new variant of glycogen storage disease. Type IXc.

Authors:  A Lerner; T C Iancu; N Bashan; R Potashnik; S Moses
Journal:  Am J Dis Child       Date:  1982-05

6.  Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen.

Authors:  G Hug; W K Schubert; G Chuck
Journal:  Science       Date:  1966-09-23       Impact factor: 47.728

7.  Hemolytic anemia and G6PD deficiency.

Authors:  A Yoshida
Journal:  Science       Date:  1973-02-09       Impact factor: 47.728

8.  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.  Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver.

Authors:  G Hug; W K Schubert; G Chuck
Journal:  J Clin Invest       Date:  1969-04       Impact factor: 14.808

10.  Inactivation of glycogen phosphorylase of human polymorphonuclear leukocytes.

Authors:  S Rörth; P Wang; V Esmann
Journal:  Scand J Clin Lab Invest       Date:  1975-07       Impact factor: 1.713
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  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.  Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency.

Authors:  H Carrier; I Maire; C Vial; G Rambaud; F Flocard; A Flechaire
Journal:  Acta Neuropathol       Date:  1990       Impact factor: 17.088

3.  In Silico characterization of phosphorylase kinase: evidence for an alternate intronic polyadenylation site in PHKG1.

Authors:  Joni S Winchester; Eric C Rouchka; Naomi S Rowland; Nancy A Rice
Journal:  Mol Genet Metab       Date:  2007-08-09       Impact factor: 4.797

4.  Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

Authors:  Laurie M Brown; Michelle M Corrado; Rixt M van der Ende; Terry G J Derks; Margaret A Chen; Sara Siegel; Kate Hoyt; Catherine E Correia; Christopher Lumpkin; Theresa B Flanagan; Caroline T Carreras; David A Weinstein
Journal:  J Inherit Metab Dis       Date:  2014-07-29       Impact factor: 4.982

5.  A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.

Authors:  Yasuhiko Ago; Hideo Sugie; Tokiko Fukuda; Hiroki Otsuka; Hideo Sasai; Mina Nakama; Elsayed Abdelkreem; Toshiyuki Fukao
Journal:  JIMD Rep       Date:  2019-05-28
  5 in total

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