Literature DB >> 5550595

Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts.

U Langenbeck, H W Rüdiger, M Schulze-Schencking, W Keller, D Brackertz, H W Goedde.   

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Year:  1971        PMID： 5550595     DOI： 10.1007/bf00278658

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  27 in total

1.  [PROCEDURE FOR A SIMPLIFIED HETEROZYGOTE TEST FOR THE MAPLE SYRUP URINE DISEASE].

Authors:  H W GOEDDE; E RICHTER; M HUEFNER; B SIXEL
Journal:  Klin Wochenschr       Date:  1964-08-15

2.  [LEUCINOSIS: A VARIANT OF BRANCHED-CHAIN KETO-ACIDURIA].

Authors:  P DURAND; G M LAMEDICA; A M MARTINO
Journal:  Pediatrie       Date:  1965-03

3.  Metabolism of the white blood cells in maple-syrup-urine disease.

Authors:  J DANCIS; J HUTZLER; M LEVITZ
Journal:  Biochim Biophys Acta       Date:  1960-09-23

4.  A one-stage procedure for isolation of granulocytes and lymphocytes from human blood. General sedimentation properties of white blood cells in a 1g gravity field.

Authors:  A Böyum
Journal:  Scand J Clin Lab Invest Suppl       Date:  1968

5.  The absence of inactivation at two autosomal loci.

Authors:  B Sigman; S M Gartler
Journal:  Humangenetik       Date:  1966

6.  Genetically determined differences in the response of alpha-antitrypsin levels in human serum to typhoid vaccine.

Authors:  F Kueppers
Journal:  Humangenetik       Date:  1968

7.  Genetic factors influencing human serum trehalase activity.

Authors:  L C Eze; M C Tweedie; D A Evans
Journal:  J Med Genet       Date:  1970-03       Impact factor: 6.318

8.  Studies on the quantitative variation of human red cell peptidase A activity.

Authors:  K P Sinha; W H Lewis; G Corney; H Harris
Journal:  Ann Hum Genet       Date:  1970-10       Impact factor: 1.670

9.  Maple syrup urine disease variant--amino acid pattern and problems of treatment during acute attacks.

Authors:  J Steen-Johnsen; E J Vellan; L R Gjessing
Journal:  Acta Paediatr Scand Suppl       Date:  1970

10.  Oxidation of branched chain -ketoacids in Streptococcus faecalis and it's dependence on lipoic acid.

Authors:  H W Rüdiger; U Langenbeck; H W Goedde
Journal:  Hoppe Seylers Z Physiol Chem       Date:  1972-06
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  4 in total

1.  Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.

Authors:  K Tanaka; R Mandell; V E Shih
Journal:  J Clin Invest       Date:  1976-07       Impact factor: 14.808

2.  Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease.

Authors:  H W Rüdiger; U Langenbeck; M Schulze-Schencking; H W Goedde
Journal:  Humangenetik       Date:  1972

3.  Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem.

Authors:  U Langenbeck; T Grimm; H W Rüdiger; E Passarge
Journal:  Humangenetik       Date:  1975

4.  Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

Authors:  D T Chuang; L S Ku; D S Kerr; R P Cox
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025
  4 in total

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