(Q51874580)

15 April 2018

title

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results. (English)

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15 April 2018

enzyme replacement therapy

main subject

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author name string

M A Hamdan

series ordinal

1

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15 April 2018

M H Almalik

series ordinal

2

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15 April 2018

H M Mirghani

series ordinal

3

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15 April 2018

publication date

12 December 2008

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15 April 2018

Journal of Inherited Metabolic Disease

published in

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15 April 2018

volume

31 Suppl 2

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15 April 2018

page(s)

S431-6

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15 April 2018

https://scigraph.springernature.com/pub.10.1007/s10545-008-1000-0

exact match

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cites work

Antenatal diagnosis of heart disease

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

Pompe disease diagnosis and management guideline.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

Fetal cardiomyopathies: pathogenic mechanisms, hemodynamic findings, and clinical outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

Electron Microscopy of Chorionic Villus Samples for Prenatal Diagnosis of Lysosomal Storage Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-008-1000-0

Hypertrophic cardiomyopathy in a newborn infant

21 January 2018

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12 December 2020

Prenatal diagnosis of Pompe disease by electron microscopy

1 reference

12 December 2020

Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: Italian multicentre study. Fetal Cardiology Study Group of the Italian Society of Pediatric Cardiology

1 reference

12 December 2020

Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?

1 reference

12 December 2020

Utility of cardiac monitoring in fetuses at risk for congenital heart block: the PR Interval and Dexamethasone Evaluation (PRIDE) prospective study

1 reference

12 December 2020

Rapid Prenatal Diagnosis of Glycogen-Storage Disease Type II by Electron Microscopy of Uncultured Amniotic-Fluid Cells

1 reference

12 December 2020

Mid-trimester genetic amniocentesis in twin pregnancy and the risk of fetal loss.

1 reference

12 December 2020

Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experience

1 reference

12 December 2020

10.1007/S10545-008-1000-0

Identifiers

DOI

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15 April 2018

1 reference

15 April 2018