Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. (Q49977306)

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2 April 2020

title

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy (English)

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2 April 2020

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2

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Robert J Desnick

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2 April 2020

author name string

Alberto B Burlina

1

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2 April 2020

Leonardo Salviati

3

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2 April 2020

Giovanni Duro

4

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2 April 2020

Carmela Zizzo

5

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2 April 2020

Andrea Dardis

6

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2 April 2020

Bruno Bembi

7

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2 April 2020

Chiara Cazzorla

8

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2 April 2020

Laura Rubert

9

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2 April 2020

Roberta Zordan

10

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2 April 2020

Alessandro P Burlina

12

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publication date

15 November 2017

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Journal of Inherited Metabolic Disease

2 April 2020

published in

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volume

41

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2 April 2020

page(s)

209-219

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2 April 2020

issue

2

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https://scigraph.springernature.com/pub.10.1007/s10545-017-0098-3

2 April 2020

exact match

0 references

cites work

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Newborn screening for lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Newborn screening of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Newborn screening for lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Glucosylsphingosine is a key biomarker of Gaucher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Clarifying lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Late onset variants in Fabry disease: Results in high risk population screenings in Argentina

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Neonatal Screening for Inherited Metabolic Diseases in 2016.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-017-0098-3