Concepedia

J. De Mari

JD

5

Publications

220

Citations

5

H-Index

2006

Active since

Affiliations

Universidade Federal do Rio Grande do Sul(Current)

Hospital de Clínicas de Porto Alegre

National Institute on Population Medical Genetics

J. De Mari is an author at Universidade Federal do Rio Grande do Sul specializing in medicine, medical laboratory science, and bioanalysis.

Top concepts

Publications per year

2006–2016

5

Publications

5

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

Gabriel Civallero, Kristiane Michelin, J. De Mari et al. · Clinica Chimica Acta · 2006 · 120 citations

, , +8

Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

Marli Viapiana Camelier, Maira Graeff Burin, J. De Mari et al. · Clinica Chimica Acta · 2011 · 41 citations

Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease

Gabriel Civallero, J. De Mari, Camila Matzenbacher Bittar et al. · Gene · 2014 · 28 citations

, , +7

Reliable detection of mucopolysacchariduria in dried-urine filter paper samples

Gabriel Civallero, Fernanda Bender, Ana Paula Gomes et al. · Clinica Chimica Acta · 2012 · 18 citations

, , +9

Selective screening of Niemann–Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis

Graziela S. Ribas, Heryk Motta de Souza, J. De Mari et al. · Clinica Chimica Acta · 2016 · 13 citations

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