(Q52885417)

9 May 2018

title

Heterozygote tests and genetic counseling in maple syrup urine disease: an application of Baye's theorem (English)

1 reference

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26 August 2022

author name string

U. Langenbeck

1

1 reference

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26 August 2022

T. Grimm

2

1 reference

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26 August 2022

H. W. Rüdiger

3

1 reference

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26 August 2022

E. Passarge

4

1 reference

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26 August 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1150251

26 August 2022

publication date

1 January 1975

1 reference

9 May 2018

published in

Humangenetik

1 reference

9 May 2018

volume

27

1 reference

9 May 2018

issue

4

1 reference

9 May 2018

page(s)

315-322

1 reference

9 May 2018

A simplified method for the preparation of 14 C-labelled branched-chain -oxo acids

cites work

1 reference

12 December 2020

1 reference

12 December 2020

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

1 reference

12 December 2020

Detection of the carrier state in hereditary coagulation disorders. II.

1 reference

12 December 2020

The use of biochemical data in screening for mutant alleles and in genetic counselling

1 reference

12 December 2020

Studies on human beta-D-N-acetylhexosaminidases. 3. Biochemical genetics of Tay-Sachs and Sandhoff's diseases.

1 reference

12 December 2020

PROCEDURE FOR A SIMPLIFIED HETEROZYGOTE TEST FOR THE MAPLE SYRUP URINE DISEASE

1 reference

12 December 2020

Maple syrup urine disease: Rapid prenatal diagnosis by enzyme assay

1 reference

12 December 2020

Enzyme activity in two red cell adenylate kinase phenotypes

1 reference

12 December 2020

Genetic counselling in lethal X-linked disorders

1 reference

12 December 2020

A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

1 reference

12 December 2020

Identification of the heterozygous state for the alpha-1-antitrypsin deficiency gene in man

1 reference

12 December 2020

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00278424

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1150251

26 August 2022

1 reference

9 May 2018