(Q34663801)

3 August 2017

title

Chorionic villus sampling: diagnostic uses and limitations of enzyme assays (English)

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3 August 2017

Fowler B

1

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3 August 2017

Giles L

series ordinal

2

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3 August 2017

Cooper A

series ordinal

3

1 reference

3 August 2017

Sardharwalla IB

series ordinal

4

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3 August 2017

publication date

1 January 1989

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Journal of Inherited Metabolic Disease

3 August 2017

published in

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3 August 2017

volume

12 Suppl 1

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3 August 2017

page(s)

105-117

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https://scigraph.springernature.com/pub.10.1007/bf01799290

3 August 2017

exact match

0 references

cites work

Identification and partial characterization of two enzyme forms of iduronate sulfatase from human placenta.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF01799290

A comparison of the alpha-L-fucosidase activities of human liver and serum

21 January 2018

1 reference

12 December 2020

Prenatal diagnosis of Wolman disease

1 reference

12 December 2020

The arylsulphatases of chorionic villi: potential problems in the first-trimester diagnosis of metachromatic leucodystrophy and Maroteaux-Lamy disease

1 reference

12 December 2020

First trimester diagnosis of methylmalonic aciduria

1 reference

12 December 2020

First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis'

1 reference

12 December 2020

Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk. Experience with 1,000 cases

1 reference

12 December 2020

Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine

1 reference

12 December 2020

Prenatal diagnosis of inherited metabolic disease by chorionic villus analysis: the Edinburgh experience

1 reference

12 December 2020

First trimester diagnosis of Hunter syndrome on chorionic villi

1 reference

12 December 2020

Lysosomal enzymes in chorionic villi, cultured amniocytes, and cultured skin fibroblasts

1 reference

12 December 2020

First trimester prenatal diagnosis of Sandhoff's disease.

1 reference

12 December 2020

Evaluation of possible first trimester prenatal diagnosis in lysosomal diseases by trophoblast biopsy

1 reference

12 December 2020

Aryl sulphatase isoenzymes of chorionic villi: implications for prenatal diagnosis

1 reference

12 December 2020

Prenatal diagnosis of argininosuccinicaciduria by analysis of cultured chorionic villi

1 reference

12 December 2020

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts

1 reference

12 December 2020

First trimester prenatal diagnosis of metabolic diseases: a survey in countries from the European community

1 reference

12 December 2020

Comparative study of 15 lysosomal enzymes in chorionic villi and cultured amniotic fluid cells. Early prenatal diagnosis in seven pregnancies at risk for lysosomal storage diseases

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01799290

1 reference

Dimensions Publication ID

3 August 2017

1013658983

0 references

1 reference