Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots-Reference-Cited by-同舟云学术

Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots

Published:2017-01 Issue: Volume:5 Page:232640981769236
ISSN:2326-4098
Container-title:Journal of Inborn Errors of Metabolism and Screening
language:en
Short-container-title:Journal of Inborn Errors of Metabolism and Screening

Author:

Ribas Graziela Schmitt¹,De Mari Jurema Fátima¹,Civallero Gabriel¹,de Souza Heryk Motta²,Burin Maira Graeff¹,Vargas Carmen Regla¹³,Giugliani Roberto¹⁴⁵

Affiliation:

1. Medical Genetics Service, HCPA, and WHO Collaborating Center for the Development of Medical Genetic Services in Latin America, Porto Alegre, Rio Grande do Sul, Brazil

2. Faculdade de Farmácia, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil

3. Departamento de Análises, Faculdade de Farmácia, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil

4. Department of Genetics and Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil

5. Instituto Nacional de Genética Médica Populacional—INAGEMP, Porto Alegre, Rio Grande do Sul, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics (clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/2326409817692360

Reference25 articles.

1. Prevalence of Lysosomal Storage Disorders

2. Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases

3. Newborn Screening of Lysosomal Storage Disorders

4. Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care

5. Immunochemistry of Lysosomal Storage Disorders

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