Literature DB >> 3183845

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

L J Alvarado1, E Gasca-Centeno, R E Grier.   

Abstract

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Year:  1988        PMID： 3183845     DOI： 10.1016/s0022-3476(88)80020-9

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


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  4 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.  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

3.  Diagnosis of glycogen storage disease.

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

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
  4 in total

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