Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria (Q34237462)

31 July 2017

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria (English)

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31 July 2017

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6

Arnold Pollak

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31 July 2017

Thomas P Mechtler

1

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31 July 2017

Susanne Stary

2

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31 July 2017

Thomas F Metz

3

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31 July 2017

Víctor R De Jesús

4

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31 July 2017

Susanne Greber-Platzer

5

1 reference

31 July 2017

Kurt R Herkner

7

1 reference

31 July 2017

Berthold Streubel

8

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31 July 2017

David C Kasper

9

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31 July 2017

language of work or name

English

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publication date

29 November 2011

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31 July 2017

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31 July 2017

379

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31 July 2017

9813

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31 July 2017

335-341

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Screening newborns for inborn errors of metabolism by tandem mass spectrometry

31 July 2017

1 reference

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Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening

1 reference

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Insights into the diagnosis and treatment of lysosomal storage diseases

1 reference

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7 January 2021

Prevalence of lysosomal storage disorders

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Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008

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Phenotype, diagnosis, and treatment of Gaucher's disease

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Variable clinical presentation in lysosomal storage disorders

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New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

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7 January 2021

Simplified newborn screening protocol for lysosomal storage disorders

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Digital microfluidics: a future technology in the newborn screening laboratory?

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

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

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

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7 January 2021

The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals

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7 January 2021

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

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7 January 2021

The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots

1 reference

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7 January 2021

Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry

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Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease

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7 January 2021

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

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7 January 2021

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders

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7 January 2021

THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL

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The E326K mutation and Gaucher disease: mutation or polymorphism?

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Improving and assuring newborn screening laboratory quality worldwide: 30-year experience at the Centers for Disease Control and Prevention

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7 January 2021

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

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7 January 2021

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)

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7 January 2021

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

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7 January 2021

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

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

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The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

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Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy

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7 January 2021

Fabry disease: a review of current management strategies

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7 January 2021

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

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7 January 2021

Screening for lysosomal storage disorders--a clinical perspective

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

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Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

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Newborn screening for neuropathic lysosomal storage disorders.

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Newborn bloodspot screening for lysosomal storage disorders

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7 January 2021

10.1016/S0140-6736(11)61266-X

Identifiers

DOI

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31 July 2017

1 reference