(Q37031665)

17 August 2017

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

1 reference

17 August 2017

0 references

15

A Lugowska

1 reference

17 August 2017

Pompe Disease Diagnostic Working Group

1

1 reference

17 August 2017

B Winchester

2

1 reference

17 August 2017

D Bali

3

1 reference

17 August 2017

O A Bodamer

4

1 reference

17 August 2017

C Caillaud

5

1 reference

17 August 2017

E Christensen

6

1 reference

17 August 2017

A Cooper

7

1 reference

17 August 2017

E Cupler

8

1 reference

17 August 2017

M Deschauer

9

1 reference

17 August 2017

K Fumić

10

1 reference

17 August 2017

M Jackson

11

1 reference

17 August 2017

P Kishnani

12

1 reference

17 August 2017

L Lacerda

13

1 reference

17 August 2017

J Ledvinová

14

1 reference

17 August 2017

Z Lukacs

16

1 reference

17 August 2017

I Maire

17

1 reference

17 August 2017

H Mandel

18

1 reference

17 August 2017

E Mengel

19

1 reference

17 August 2017

W Müller-Felber

20

1 reference

17 August 2017

M Piraud

21

1 reference

17 August 2017

A Reuser

22

1 reference

17 August 2017

T Rupar

23

1 reference

17 August 2017

I Sinigerska

24

1 reference

17 August 2017

M Szlago

25

1 reference

17 August 2017

F Verheijen

26

1 reference

17 August 2017

O P van Diggelen

27

1 reference

17 August 2017

B Wuyts

28

1 reference

17 August 2017

E Zakharova

29

1 reference

17 August 2017

J Keutzer

30

1 reference

17 August 2017

19 December 2007

1 reference

Molecular Genetics and Metabolism

17 August 2017

1 reference

17 August 2017

93

1 reference

17 August 2017

3

1 reference

17 August 2017

275-281

1 reference

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

17 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Glycogen storage disease types I and II: treatment updates

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Pompe disease in infants and children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Pompe disease diagnosis and management guideline.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

The natural course of non-classic Pompe's disease; a review of 225 published cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Glycogenosis type II (acid maltase deficiency)

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

7 January 2021

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

inferred from DOI database lookup

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Variation in lysosomal enzyme activity during growth in culture of human fibroblasts and amniotic fluid cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Pompe's disease: Diagnosis in kidney and leucocytes using 4-methylumbelliferyl-α-D-glucopyranoside

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution–electrospray ionization tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Increased urinary excretion of a glycogen-derived tetrasaccharide in heterozygotes with glycogen storage diseases type II and III

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

A diagnostic protocol for adult-onset glycogen storage disease type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

Elevation of transaminases as an early sign of late-onset glycogenosis type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.09.006

10.1016/J.YMGME.2007.09.006

7 January 2021

Identifiers

DOI

1 reference

17 August 2017

1 reference