(Q46039894)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19387865%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

title

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19387865%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference

Nadine A van der Beek

3

1 reference

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26 January 2020

author name string

O P van Diggelen

1

1 reference

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26 January 2020

L F Oemardien

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19387865%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

M A Kroos

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19387865%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

H K Wind

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19387865%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Y V Voznyi

6

1 reference

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26 January 2020

D Burke

7

1 reference

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26 January 2020

M Jackson

8

1 reference

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26 January 2020

B G Winchester

9

1 reference

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26 January 2020

A J J Reuser

10

1 reference

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26 January 2020

publication date

19 April 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19387865%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

26 January 2020

published in

1 reference

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26 January 2020

volume

32

1 reference

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26 January 2020

issue

3

1 reference

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26 January 2020

page(s)

416-423

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-009-1082-3

26 January 2020

exact match

0 references

1 reference

12 December 2020

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

1 reference

12 December 2020

Diagnosis of glycogenosis type II.

1 reference

12 December 2020

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease

1 reference

12 December 2020

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

1 reference

12 December 2020

An investigation of the properties and possible clinical significance of the lysosomal alpha-glucosidase GAA*2 allele

1 reference

12 December 2020

Acid ?-glucosidase: A new polymorphism in man demonstrable by ?affinity? electrophoresis

1 reference

12 December 2020

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders

1 reference

12 December 2020

Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots

1 reference

12 December 2020

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.

1 reference

12 December 2020

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting

1 reference

12 December 2020

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease

1 reference

12 December 2020

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots

1 reference

12 December 2020

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

1 reference

12 December 2020

Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells

1 reference

12 December 2020

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

1 reference

12 December 2020

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

1 reference

12 December 2020

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

1 reference

12 December 2020

10.1007/S10545-009-1082-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19387865%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference