(Q53427899)

English

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.

scientific article published on 9 March 2017

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scholarly article

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6 April 2020

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 (English)

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6 April 2020

Héctor Cruz-Camino

8

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6 April 2020

author name string

Juana Inés Navarrete-Martínez

1

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6 April 2020

Ana Elena Limón-Rojas

2

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6 April 2020

Maria de Jesús Gaytán-García

3

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6 April 2020

Jesús Reyna-Figueroa

4

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6 April 2020

Guillermo Wakida-Kusunoki

5

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6 April 2020

Ma Del Rocío Delgado-Calvillo

6

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6 April 2020

Consuelo Cantú-Reyna

7

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6 April 2020

David Eduardo Cervantes-Barragán

9

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6 April 2020

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9 March 2017

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6 April 2020

Molecular Genetics and Metabolism

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6 April 2020

121

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6 April 2020

1

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6 April 2020

16-21

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6 April 2020

Prevalence of lysosomal storage disorders

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Screening for lysosomal storage disorders--a clinical perspective

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Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

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Newborn bloodspot screening for lysosomal storage disorders

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Newborn screening for lysosomal storage disorders

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7 January 2021

Newborn screening for lysosomal storage diseases

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7 January 2021

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

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

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

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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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Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

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First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene

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

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7 January 2021

Newborn screening for lysosomal storage disorders in hungary.

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Fabry disease: 20 novel GLA mutations in 35 families

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7 January 2021

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

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7 January 2021

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

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7 January 2021

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

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Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

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7 January 2021

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

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7 January 2021

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

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7 January 2021

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

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7 January 2021

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

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7 January 2021

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

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7 January 2021

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

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7 January 2021

Newborn screening for Pompe disease in Japan

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Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

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7 January 2021

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

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7 January 2021

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity

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7 January 2021

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

1 reference

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7 January 2021

A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

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

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Identifiers

10.1016/J.YMGME.2017.03.001

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Europe PubMed Central

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6 April 2020

1 reference

Europe PubMed Central

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6 April 2020

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