Matches in SemOpenAlex for { <https://semopenalex.org/work/W2425503609> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W2425503609 endingPage "7" @default.
- W2425503609 startingPage "493" @default.
- W2425503609 abstract "Muscle, erythrocyte and/or leukocyte phosphorylase b kinase (PBK) activities were measured in 5 patients and in 2 families. The relation between phenotype and enzyme deficiency in clinically variable samples based on measurement of erythrocytes, leukocytes or muscle was described. Three patients showed the enzyme deficiency in liver and the disease was transmitted as an X-linked recessive trait. In these cases, our results suggested that carrier detection was more reliable with erythrocytes than leukocytes. Two patients showed enzyme deficiency in muscle, and the mode of inheritance was not clear. In these cases, muscle biopsies were necessary for diagnosis." @default.
- W2425503609 created "2016-06-24" @default.
- W2425503609 creator A5038685030 @default.
- W2425503609 creator A5042409492 @default.
- W2425503609 creator A5052642226 @default.
- W2425503609 creator A5058981276 @default.
- W2425503609 creator A5064842222 @default.
- W2425503609 creator A5085516268 @default.
- W2425503609 date "1994-11-01" @default.
- W2425503609 modified "2023-09-23" @default.
- W2425503609 title "[Five cases of phosphorylase b kinase deficiency affecting muscle or liver: clinical symptoms and diagnosis]." @default.
- W2425503609 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7803079" @default.
- W2425503609 hasPublicationYear "1994" @default.
- W2425503609 type Work @default.
- W2425503609 sameAs 2425503609 @default.
- W2425503609 citedByCount "0" @default.
- W2425503609 crossrefType "journal-article" @default.
- W2425503609 hasAuthorship W2425503609A5038685030 @default.
- W2425503609 hasAuthorship W2425503609A5042409492 @default.
- W2425503609 hasAuthorship W2425503609A5052642226 @default.
- W2425503609 hasAuthorship W2425503609A5058981276 @default.
- W2425503609 hasAuthorship W2425503609A5064842222 @default.
- W2425503609 hasAuthorship W2425503609A5085516268 @default.
- W2425503609 hasConcept C104317684 @default.
- W2425503609 hasConcept C126322002 @default.
- W2425503609 hasConcept C127716648 @default.
- W2425503609 hasConcept C134018914 @default.
- W2425503609 hasConcept C142724271 @default.
- W2425503609 hasConcept C181199279 @default.
- W2425503609 hasConcept C195147555 @default.
- W2425503609 hasConcept C204779464 @default.
- W2425503609 hasConcept C2911090574 @default.
- W2425503609 hasConcept C55493867 @default.
- W2425503609 hasConcept C71924100 @default.
- W2425503609 hasConcept C86803240 @default.
- W2425503609 hasConcept C90924648 @default.
- W2425503609 hasConceptScore W2425503609C104317684 @default.
- W2425503609 hasConceptScore W2425503609C126322002 @default.
- W2425503609 hasConceptScore W2425503609C127716648 @default.
- W2425503609 hasConceptScore W2425503609C134018914 @default.
- W2425503609 hasConceptScore W2425503609C142724271 @default.
- W2425503609 hasConceptScore W2425503609C181199279 @default.
- W2425503609 hasConceptScore W2425503609C195147555 @default.
- W2425503609 hasConceptScore W2425503609C204779464 @default.
- W2425503609 hasConceptScore W2425503609C2911090574 @default.
- W2425503609 hasConceptScore W2425503609C55493867 @default.
- W2425503609 hasConceptScore W2425503609C71924100 @default.
- W2425503609 hasConceptScore W2425503609C86803240 @default.
- W2425503609 hasConceptScore W2425503609C90924648 @default.
- W2425503609 hasIssue "6" @default.
- W2425503609 hasLocation W24255036091 @default.
- W2425503609 hasOpenAccess W2425503609 @default.
- W2425503609 hasPrimaryLocation W24255036091 @default.
- W2425503609 hasRelatedWork W1135930748 @default.
- W2425503609 hasRelatedWork W1579685007 @default.
- W2425503609 hasRelatedWork W1969136518 @default.
- W2425503609 hasRelatedWork W2043372581 @default.
- W2425503609 hasRelatedWork W2056528285 @default.
- W2425503609 hasRelatedWork W2063041624 @default.
- W2425503609 hasRelatedWork W2078205630 @default.
- W2425503609 hasRelatedWork W2094115911 @default.
- W2425503609 hasRelatedWork W2112925060 @default.
- W2425503609 hasRelatedWork W2480560083 @default.
- W2425503609 hasVolume "26" @default.
- W2425503609 isParatext "false" @default.
- W2425503609 isRetracted "false" @default.
- W2425503609 magId "2425503609" @default.
- W2425503609 workType "article" @default.