Found: 9

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  • Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 3, p. 349, doi. 10.1002/ajmg.c.31915
    By:
    • Josahkian, Juliana Alves;
    • Brusius‐Facchin, Ana Carolina;
    • Netto, Alice Brinckmann Oliveira;
    • Leistner‐Segal, Sandra;
    • Málaga, Diana Rojas;
    • Burin, Maira Graeff;
    • Michelin‐Tirelli, Kristiane;
    • Trapp, Franciele Barbosa;
    • Cardoso‐dos‐Santos, Augusto César;
    • Ribeiro, Erlane Marques;
    • Kim, Chong Ae;
    • de Siqueira, Ana Cecília Menezes;
    • Santos, Mara Lucia;
    • do Valle, Daniel Almeida;
    • da Silva, Raquel Tavares Boy;
    • Horovitz, Dafne Dain Gandelman;
    • de Medeiros, Paula Frassinetti Vasconcelos;
    • de Souza, Carolina Fischinger Moura;
    • Giuliani, Liane de Rosso;
    • Miguel, Diego Santana Chaves Geraldo
    Publication type:
    Article

  • Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 760, doi. 10.1002/ajmg.a.62572
    By:
    • Montenegro, Yorran Hardman Araújo;
    • de Souza, Carolina Fischinger Moura;
    • Kubaski, Francyne;
    • Trapp, Franciele Barbosa;
    • Burin, Maira Graeff;
    • Michelin‐Tirelli, Kristiane;
    • Leistner‐Segal, Sandra;
    • Facchin, Ana Carolina Brusius;
    • Medeiros, Fernanda S.;
    • Giugliani, Luciana;
    • Ribeiro, Erlane Marques;
    • Lourenço, Charles Marques;
    • Cardoso‐dos‐Santos, Augusto César;
    • Ribeiro, Márcia Gonçalves;
    • Kim, Chong Ae;
    • Castro, Matheus Augusto Araújo;
    • Embiruçu, Emília Katiane;
    • Steiner, Carlos Eduardo;
    • Moreira, Maria Lucia Castro;
    • Montano, Hector Quintero
    Publication type:
    Article

  • Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.

    Published in:
    Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02875-3
    By:
    • Wilke, Matheus Vernet Machado Bressan;
    • Poswar, Fabiano;
    • Borelli, Wyllians Vendramini;
    • Michelin Tirelli, Kristiane;
    • Randon, Dévora Natalia;
    • Lopes, Franciele Fátima;
    • Pasetto, Fernanda Bender;
    • Sebastião, Fernanda Medeiros;
    • Iop, Gabrielle Dineck;
    • Faqueti, Larissa;
    • da Silva, Layzon Antonio;
    • Kubaski, Francyne;
    • Schuh, Artur Francisco Schumacher;
    • Giugliani, Roberto;
    • Schwartz, Ida Vanessa Doederlein
    Publication type:
    Article

  • Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 162, doi. 10.1002/jmd2.12270
    By:
    • Kubaski, Francyne;
    • Herbst, Zackary M.;
    • Burin, Maira Graeff;
    • Michelin‐Tirelli, Kristiane;
    • Trapp, Franciele B.;
    • Gus, Rejane;
    • Netto, Alice B. O.;
    • Brusius‐Facchin, Ana Carolina;
    • Leistner‐Segal, Sandra;
    • Sanseverino, Maria Teresa;
    • Souza, Carolina Moura Fischinger de;
    • Wilke, Matheus V. M. B.;
    • Oliveira, Thiago;
    • Magalhães, Jose A. A.;
    • Giugliani, Roberto
    Publication type:
    Article

  • Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.

    Published in:
    2022
    By:
    • Kubaski, Francyne;
    • Burlina, Alberto;
    • Pereira, Danilo;
    • Silva, Camilo;
    • Herbst, Zackary M.;
    • Trapp, Franciele B.;
    • Michelin-Tirelli, Kristiane;
    • Lopes, Franciele F.;
    • Burin, Maira G.;
    • Brusius-Facchin, Ana Carolina;
    • Netto, Alice B. O.;
    • Poletto, Edina;
    • Bernardes, Tamires M.;
    • Carvalho, Gerson S.;
    • Sorte, Ney B.;
    • Ferreira, Fernanda N.;
    • Perin, Nilza;
    • Clivati, Marta R.;
    • de Santana, Marnie T. S.;
    • Lobos, Sandra F. G.
    Publication type:
    journal article

  • Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030039
    By:
    • Kubaski, Francyne;
    • Burlina, Alberto;
    • Polo, Giulia;
    • Pereira, Danilo;
    • Herbst, Zackary M.;
    • Silva, Camilo;
    • Trapp, Franciele B.;
    • Michelin-Tirelli, Kristiane;
    • Lopes, Franciele F.;
    • Burin, Maira G.;
    • Brusius-Facchin, Ana Carolina;
    • Netto, Alice B. O.;
    • Faqueti, Larissa;
    • Iop, Gabrielle D.;
    • Poletto, Edina;
    • Giugliani, Roberto
    Publication type:
    Article

  • Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

    Published in:
    2017
    By:
    • Kubaski, Francyne;
    • Brusius‐Facchin, Ana Carolina;
    • Mason, Robert W.;
    • Patel, Pravin;
    • Burin, Maira G.;
    • Michelin‐Tirelli, Kristiane;
    • Kessler, Rejane Gus;
    • Bender, Fernanda;
    • Leistner‐Segal, Sandra;
    • Moreno, Carolina A.;
    • Cavalcanti, Denise P.;
    • Giugliani, Roberto;
    • Tomatsu, Shunji
    Publication type:
    journal article

  • 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.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2870, doi. 10.3390/ijms25052870
    By:
    • Vernet Machado Bressan Wilke, Matheus;
    • Iop, Gabrielle Dineck;
    • Faqueti, Larissa;
    • Lemos da Silva, Layzon Antonio;
    • Kubaski, Francyne;
    • Poswar, Fabiano O.;
    • Michelin-Tirelli, Kristiane;
    • Randon, Dévora;
    • Borelli, Wyllians Vendramini;
    • Giugliani, Roberto;
    • Schwartz, Ida Vanessa D.
    Publication type:
    Article

  • Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

    Published in:
    International Journal of Developmental Neuroscience, 2018, v. 66, p. 18, doi. 10.1016/j.ijdevneu.2017.11.007
    By:
    • Hammerschmidt, Tatiane Grazieli;
    • de Oliveira Schmitt Ribas, Graziela;
    • Saraiva-Pereira, Maria Luiza;
    • Bonatto, Márcia Polese;
    • Kessler, Rejane Gus;
    • Souza, Fernanda Timm Seabra;
    • Trapp, Franciele;
    • Michelin-Tirelli, Kristiane;
    • Burin, Maira Graeff;
    • Giugliani, Roberto;
    • Vargas, Carmen Regla
    Publication type:
    Article