Variant profile of Brazilian patients with Sanfilippo syndrome type B
Alice Brinckmann Oliveira Netto, Ana Carolina Brusius‐Facchin, Kristiane Michelin‐Tirelli, Fernanda Medeiros Sebastião et autres
0 citationsGenetics and Molecular Biology
Kristiane Michelin‐Tirelli
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49Publications signalées
597Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchTrypanosoma species research and implicationsCarbohydrate Chemistry and SynthesisGlycogen Storage Diseases and MyoclonusCellular transport and secretion
Publications récentes
Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador
Maria L. Moreira, Yorran Hardman Araújo Montenegro, Angélica Salatino‐Oliveira, Héctor Quintero Montano et autres
1 citationDiagnostics
Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases
Franciele Barbosa Trapp, Mariluce Riegel, Kristiane Michelin‐Tirelli, Layzon Antonio Lemos da Silva et autres
2 citationsJournal of Community Genetics
Analysis of genomic ancestry and characterization of a new variant in MPS type VII
Andreza Juliana Moreira da Costa, Isabel Cristina Neves de Souza, Raimunda Helena Ferreira Feio, Laurent Ketlen Leão Viana et autres
1 citationOrphanet Journal of Rare Diseases
Lysosomal Storage Diseases Brazil Network, helping Brazil and Latin America to identify LSD patients: Report on the first 10 years of activity
Franciele Barbosa Trapp, Mariluce Riegel, Kristiane Michelin‐Tirelli, Layzon Antonio Lemos da Silva et autres
0 citationsResearch Square
A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
Matheus Vernet Machado Bressan Wilke, Gabrielle D. Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva et autres
6 citationsInternational Journal of Molecular Sciences
Analysis of Genomic Ancestry and Characterization of a New Variant in MPS Type VII
Andreza Juliana Moreira da Costa, Isabel Cristina Neves de Souza, Raimunda Helena Ferreira Feio, Laurent Ketlen Leão Viana et autres
0 citationsResearch Square
A Brazilian patient with late infantile metachromatic leukodystrophy treated with lentiviral hematopoietic stem-cell gene therapy: A report from prenatal diagnosis to early treatment
Larissa Faqueti, Gabrielle Iop, Layzon Antonio Lemos da Silva, Francyne Kubaski et autres
0 citationsMolecular Genetics and Metabolism
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Francyne Kubaski, Alberto Burlina, Danilo Florentino Pereira, Camilo Silva et autres
21 citationsOrphanet Journal of Rare Diseases
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
Francyne Kubaski, Alberto Burlina, Giulia Polo, Danilo Florentino Pereira et autres
6 citationsInternational Journal of Neonatal Screening
Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era
Francyne Kubaski, Ana Cecília Menezes, Zackary M. Herbst, Danilo de Assis Pereira et autres
0 citationsMolecular Genetics and Metabolism
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
Francyne Kubaski, Zackary M. Herbst, Maira Graeff Burin, Kristiane Michelin‐Tirelli et autres
10 citationsJIMD Reports
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