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Jurema Fátima de Mari

Observed names: J. De Mari, J. de Mari, Jurema De Mari, Jurema F De Mari, Jurema F. de Mari, Jurema Fatíma de Mari, Jurema Fátima De Mari, Jurema de Fatima De Mari, Jurema de Mari, Mari, Jurema Fatima de, Mari, Jurema Fátima de, Mari, Jurema de
OpenAlex ID: A5087942004
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases
2006 · Gabriel Civallero, Kristiane Michelin, et al. · Clinica Chimica Acta · 123
l-Carnitine Blood Levels and Oxidative Stress in Treated Phenylketonuric Patients
2008 · Angela Sitta, Alethéa G. Barschak, et al. · Cellular and Molecular Neurobiology · 72
Reduction of lipid and protein damage in patients with disorders of propionate metabolism under treatment: a possible protective role of l ‐carnitine supplementation
2010 · Graziela S. Ribas, Vanusa Manfredini, et al. · International Journal of Developmental Neuroscience · 58
Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples
2011 · Marli V. Camelier, Maira G. Burin, et al. · Clinica Chimica Acta · 43
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Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease
2014 · G. Civallero, J. De Mari, et al. · Gene · 27
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
2021 · Juliana Alves Josahkian, Franciele Barbosa Trapp, et al. · Genetics and Molecular Biology · 26
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Reliable detection of mucopolysacchariduria in dried-urine filter paper samples
2012 · G. Civallero, F. Bender, et al. · Clinica Chimica Acta · 19
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
2016 · G.S. Ribas, H.M. Souza, et al. · Clinica Chimica Acta · 15
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Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: A new tool for the identification of Mucopolisaccharidosis IIIA and potentially other lysosomal disorders
2013 · G. Civallero, J. De Mari, et al. · Molecular Genetics and Metabolism · 7
Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases
2015 · M. Camelier, J. De Mari, et al. · Clinica Chimica Acta · 6
Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report
2009 · M. G. Burin, E. Ribeiro, et al. · Prenatal Diagnosis · 6
Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
2017 · Graziela Schmitt Ribas, Jurema Fátima De Mari, et al. · Journal of Inborn Errors of Metabolism and Screening · 5
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Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease
2014 · M. Camelier, G. Civallero, et al. · Clinica Chimica Acta · 5
Transient neonatal tyrosinemia: a frequent abnormality
1998 · Eurico Camargo Neto, Jaqueline Schulte, et al. · Jornal de Pediatria · 3
Breastfeeding in Gaucher Disease: Is Enzyme Replacement Therapy Safe?
2014 · Alícia Dorneles Dornelles, Cristina Brinckmann de Oliveira Netto, et al. · Clinical Therapeutics · 2
Padronização da técnica da Arilsulfatase A em tecidos de camundongos para posterior aplicação com pesquisa de terapia gênica
2007 · Bruna Doleys Cardoso, Valeska Lizzi Lagranha, et al. · Lume (Universidade Federal do Rio Grande do Sul) · 1
Leucodistrofia metacromática : a aplicação do PCR em tempo real na detecção molecular de mutações freqüentes em pacientes brasileiros
2006 · Hugo Bock, Jurema Fátima de Mari, et al. · Lume (Universidade Federal do Rio Grande do Sul) · 1
Protocolo diagnóstico para leucodistrofia metacromática : resultados preliminares da análise bioquímica
2006 · Bruna Doleys Cardoso, Jurema Fátima de Mari, et al. · Lume (Universidade Federal do Rio Grande do Sul) · 1
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
2021 · Josahkian, Juliana Alves, Franciele Barbosa Trapp, et al. · Figshare
Quantification of glycosaminoglycans in mucopolysaccharidosis type IIID: The first Brazilian patient identified
2020 · Francyne Kubaski, Diego Miguel, et al. · Molecular Genetics and Metabolism
Sanfilippo syndrome type B: a review of patients diagnosed by the MPS Brazil Network
2017 · Andressa Federhen, Fabiano Oliveira Poswar, et al. · Molecular Genetics and Metabolism
Relato de um laboratório de referência no diagnóstico das doenças lisossômicas de depósito
2016 · Maira Graeff Burin, Kristiane Michelin Tirelli, et al. · Lume (Universidade Federal do Rio Grande do Sul)
Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease
2015 · Marli Camelier, Gabriel Civallero, et al. · Molecular Genetics and Metabolism
Investigação de pacientes com deficiência de lipase ácida lisossomal : experiência de um centro de referência
2015 · Ana Paula Pereira Scholz de Magalhães, Jurema Fátima de Mari, et al.
Enzyme assays in dried-cell filter paper samples: A new tool for the identification of lysosomal storage disorders
2013 · Gabriel Civallero, Jurema De Mari, et al. · Molecular Genetics and Metabolism
Works count: 53
Citation count: 420
H-index: 8
I10-index: 8
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