(Q40325048)

19 September 2017

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

1 reference

19 September 2017

R Rodney Howell

1

1 reference

19 September 2017

Barry Byrne

2

1 reference

19 September 2017

Basil T Darras

3

1 reference

19 September 2017

Priya Kishnani

4

1 reference

19 September 2017

Marc Nicolino

5

1 reference

19 September 2017

Ans van der Ploeg

6

1 reference

19 September 2017

language of work or name

English

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publication date

1 May 2006

1 reference

19 September 2017

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19 September 2017

8

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19 September 2017

5

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19 September 2017

289-296

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https://scigraph.springernature.com/pub.10.1097/01.gim.0000204462.42910.b8

19 September 2017

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cites work

The floppy infant: contribution of genetic and metabolic disorders

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

The floppy weak infant revisited

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Enzyme therapy for Pompe disease: from science to industrial enterprise

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Glycogenosis type II (acid maltase deficiency)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Pompe disease in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Electrophysiological phenotyping in genetically engineered mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

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/10.1097%2F01.GIM.0000204462.42910.B8

Anaesthetic management of infants with glycogen storage disease type II: a physiological approach

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Autophagic vacuolar myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Diagnostic profile of neonatal hypotonia: an 11-year study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Diagnosis of pediatric neuromuscular disorders in the era of DNA analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Disease management of Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Effects of growth hormone on pulmonary function, sleep quality, behavior, cognition, growth velocity, body composition, and resting energy expenditure in Prader-Willi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

An interesting case of infant sudden death: severe hypertrophic cardiomyopathy in Pompe's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000204462.42910.B8

10.1097/01.GIM.0000204462.42910.B8

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

19 September 2017

0 references

1 reference