Literature DB >> 1886411

Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes and erythrocytes.

H D Bakker1, J A Taminiau, J E van den Berg, R Berger.   

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Year:  1991        PMID： 1886411     DOI： 10.1007/bf01800604

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


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  3 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.  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

3.  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
  3 in total
  5 in total

1.  Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes.

Authors:  C Fiçicioğlu; A Aydin; S Mikla; H Cam; Y Shin
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

2.  Hepatic phosphorylase b kinase deficiency with normal enzyme activity in erythrocytes and muscle.

Authors:  M J Lozano; T Benlloch; L V Garcia; M Garcia Fuentes
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

Authors:  J Hendrickx; P Lee; J P Keating; D Carton; I B Sardharwalla; M Tuchman; C Baussan; P J Willems
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

4.  X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.

Authors:  I E van den Berg; E A van Beurden; H E Malingré; H K van Amstel; B T Poll-The; J A Smeitink; W H Lamers; R Berger
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

5.  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
  5 in total

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