Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening (Q39438286)

12 September 2017

Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening (English)

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12 September 2017

Machtelt G Bouwman

1

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12 September 2017

Minke H de Ru

2

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12 September 2017

Gabor E Linthorst

3

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12 September 2017

Carla E M Hollak

4

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12 September 2017

Frits A Wijburg

5

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12 September 2017

Myra C B van Zwieten

6

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12 September 2017

21 March 2013

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Molecular Genetics and Metabolism

12 September 2017

1 reference

12 September 2017

109

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12 September 2017

2

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12 September 2017

201-207

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Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

12 September 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Newborn screening for Krabbe disease: the New York State model.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

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.2013.03.008

Newborn bloodspot screening for lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Fabry's Disease: Alpha-Galactosidase Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Clinical features of Fabry's disease in Australian patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Clinical benefit of enzyme replacement therapy in Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: evidence for a better outcome with early treatment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

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.2013.03.008

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

High incidence of later-onset fabry disease revealed by newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Newborn screening for mucopolysaccharidoses: opinions of patients and their families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Delayed diagnosis of cystic fibrosis and the family perspective

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Newborn screening for Duchenne muscular dystrophy: a psychosocial study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Patient and family experiences and opinions on adding 22q11 deletion syndrome to the newborn screen

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Predictive testing for Huntington's disease: a challenge for persons at risk and for professionals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Genetic education and counseling

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Expanded newborn screening: reducing harm, assessing benefit

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Parental Opinions about the Expansion of the Neonatal Screening Programme

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

Neonatal screening for treatable and untreatable disorders: prospective parents' opinions.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.03.008

10.1016/J.YMGME.2013.03.008

7 January 2021

Identifiers

DOI

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release_ggduogtt7be7fbizllcggszz4q

12 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ggduogtt7be7fbizllcggszz4q

mapped directly with Wikidata item

24 November 2022

based on heuristic

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