(Q43208556)

English

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening

scientific article published on 23 December 2009

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

object named as

Eugen Mengel

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

author name string

Zoltan Lukacs

1

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

Paulina Nieves Cobos

2

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

Ralf Hartung

4

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

Michael Beck

5

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

Marcus Deschauer

6

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

Angelika Keil

7

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

René Santer

8

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

publication date

23 December 2009

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

33

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

43-50

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

https://scigraph.springernature.com/pub.10.1007/s10545-009-9003-z

0 references

Pompe's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pompe disease diagnosis and management guideline.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Management and treatment of glycogenosis type II.

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular diagnosis of German patients with late-onset glycogen storage disease type II

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

White blood cells and the diagnosis of alpha-glucosidase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/20033296

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-009-9003-Z

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 November 2017

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