Literature DB >> 4729985

Propionic acidemia: diagnosis by enzyme assay in frozen leukocytes.

Y E Hsia, K J Scully.   

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Year:  1973        PMID： 4729985     DOI： 10.1016/s0022-3476(73)80226-4

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


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  8 in total

1.  Propionyl-CoA-carboxylase determination: study of enzyme parameters in cultured skin fibroblasts from enzyme-deficient and normal subjects.

Authors:  P Divry; M O Rolland; N Dingeon; M Mathieu; J Cotte; P Guibaud
Journal:  J Inherit Metab Dis       Date:  1978       Impact factor: 4.982

2.  Biochemical differences between mutant propionyl-CoA carboxylases from two complementation groups.

Authors:  B Wolf; Y E Hsia; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1978-09       Impact factor: 11.025

3.  Genetics of propionic acidemia in a Mennonite-Amish kindred.

Authors:  J R Kidd; B Wolf; E Hsia; K K Kidd
Journal:  Am J Hum Genet       Date:  1980-03       Impact factor: 11.025

4.  Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activity.

Authors:  F Kalousek; M D Orsulak; L R Rosenberg
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

5.  Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups.

Authors:  B Wolf; L E Rosenberg
Journal:  J Clin Invest       Date:  1978-11       Impact factor: 14.808

Review 6.  Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.

Authors:  Majid Alfadhel; Amir Babiker
Journal:  Sudan J Paediatr       Date:  2018

7.  Pyruvate carboxylase deficiencies: complementation studies between "French" and "American" phenotypes in cultured fibroblasts.

Authors:  C Augereau; D Pham Dinh; A Moncion; C Marsac; J M Saudubray; B H Robinson
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

8.  Liver transplantation in two cases of propionic acidaemia.

Authors:  J S Schlenzig; F Poggi-Travert; J Laurent; D Rabier; D Jan; U Wendel; A C Sewell; Y Revillon; P Kamoun; J M Saudubray
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  8 in total

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