Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates. (Q46039894)

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26 January 2020

title

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

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26 January 2020

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Nadine A van der Beek

3

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26 January 2020

author name string

O P van Diggelen

1

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26 January 2020

L F Oemardien

2

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26 January 2020

M A Kroos

4

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H K Wind

5

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Y V Voznyi

6

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D Burke

7

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M Jackson

8

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B G Winchester

9

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A J J Reuser

10

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publication date

19 April 2009

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Journal of Inherited Metabolic Disease

26 January 2020

published in

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volume

32

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issue

3

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page(s)

416-423

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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.

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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

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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

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12 December 2020

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

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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

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12 December 2020

10.1007/S10545-009-1082-3

Identifiers

DOI

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26 January 2020

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