Relationship Between Biochemical and Clinical Features in an English Anderson-Fabry Family (Q40256455)

18 September 2017

title

Relationship Between Biochemical and Clinical Features in an English Anderson-Fabry Family (English)

1 reference

https://api.crossref.org/works/10.1111/J.0954-6820.1979.TB13460.X

17 January 2023

1 reference

https://api.crossref.org/works/10.1111/J.0954-6820.1979.TB13460.X

17 January 2023

author name string

M. N. Hamers

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A225929

17 January 2023

D. Wise

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A225929

17 January 2023

A. Ejiofor

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A225929

17 January 2023

A. Strijland

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A225929

17 January 2023

D. Robinson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A225929

17 January 2023

J. M. Tager

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A225929

17 January 2023

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=225929

17 January 2023

publication date

1 January 1979

1 reference

full work available at URL

18 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.0954-6820.1979.tb13460.x

1 reference

https://api.crossref.org/works/10.1111/J.0954-6820.1979.TB13460.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.0954-6820.1979.tb13460.x/fullpdf

17 January 2023

1 reference

https://api.crossref.org/works/10.1111/J.0954-6820.1979.TB13460.X

17 January 2023

published in

Acta medica Scandinavica

1 reference

18 September 2017

volume

206

1 reference

18 September 2017

issue

1-2

1 reference

18 September 2017

page(s)

5-10

1 reference

Fabry's disease: normal α-galactosidase activity and urinary-sediment glycosphingolipid levels in two obligate heterozygotes

18 September 2017

cites work

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1 reference

https://api.crossref.org/works/10.1111/J.0954-6820.1979.TB13460.X

Fabry's Disease: Antenatal Detection

17 January 2023

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A biochemical investigation of angiokeratoma corporis diffusum

17 January 2023

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The identification of alpha-galactosidase B from human liver as an alpha-N-acetylgalactosaminidase

17 January 2023

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An example of rapid prenatal diagnosis of Fabry's disease using microtechniques

17 January 2023

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Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells

17 January 2023

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The genetics of human haemoglobin differences: problems and perspectives

17 January 2023

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Fabry's disease: heterozygote detection by hair root analysis

17 January 2023

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Pleistocene Man in Australia: Age and Significance of the Mungo Skeleton

17 January 2023

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Characterization of ?-galactosidase isoenzymes in normal and fabry human-Chinese hamster somatic cell hybrids

17 January 2023

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Genetic aspects of angiokeratoma corporis diffusum

17 January 2023

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Fabry's Disease: Alpha-Galactosidase Deficiency

17 January 2023

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X-chromosome inactivation and developmental patterns in mammals

17 January 2023

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Investigation of the alpha-galactosidase deficiency in Fabry's disease using antibodies against the purified enzyme.

17 January 2023

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Detection of fabry hemizygotes and heterozygotes by measurement of α-galactosidase in urine

17 January 2023

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Enzymological properties and immunological characterization of α-galactosidase isoenzymes from normal and Fabry human liver

17 January 2023

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The identity of α-galactosidase B from human liver

17 January 2023

28

1 reference

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Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles

17 January 2023

29

1 reference

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The Quarterly Journal of Medicine

17 January 2023

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Wise

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1 reference

https://api.crossref.org/works/10.1111/J.0954-6820.1979.TB13460.X

17 January 2023

Identifiers

0 references

1 reference