• Effect of one year of cryopreservation on the activity of lysosomal hydrolases from EBV-transformed lymphocytes 

      Mello, Alexandre Silva de; Mendes, F.B.; Tirelli, Kristiane Michelin; Carmelier, Marli Viapiana; Coelho, Janice Carneiro (2011) [Artigo de periódico]
      The Epstein-Barr virus (EBV) was used as an agent of B lymphocyte proliferation for subsequent diagnosis of lysosomal storage disease. Due to the constant handling of long-preserved samples in our cell bank, we decided to ...
    • Experience of the NPC Brazil network with a comprehensive program for the screening and diagnosis of Niemann-Pick disease type C 

      Kubaski, Francyne; Burlina, Alberto; Polo, Giulia; Pereira, Danilo; Herbst, Zackary M.; Silva, Camilo; Trapp, Franciele Barbosa; Tirelli, Kristiane Michelin; Lopes, Franciele Fátima; Burin, Maira Graeff; Facchin, Ana Carolina Brusius; Netto, Alice Brinckmann Oliveira; Faqueti, Larissa Gabriela; Iop, Gabrielle Dineck; Poletto, Édina; Giugliani, Roberto (2022) [Artigo de periódico]
      Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid ...
    • Lysosomal diseases : overview on current diagnosis and treatment 

      Poswar, Fabiano de Oliveira; Vairo, Filippo Pinto e; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Facchin, Ana Carolina Brusius; Kubaski, Francyne; Souza, Carolina Fischinger Moura de; Baldo, Guilherme; Giugliani, Roberto (2019) [Artigo de periódico]
      Lysosomal diseases (LDs), also known as lysosomal storage diseases (LSDs), are a heterogeneous group of conditions caused by defects in lysosomal function. LDs may result from deficiency of lysosomal hydrolases, ...
    • Measurement of sulfatides in the amniotic fluid supernatant : a useful tool in the prenatal diagnosis of metachromatic leukodystrophy 

      Kubaski, Francyne; Herbst, Zackary M.; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Trapp, Franciele Barbosa; Kessler, Rejane Gus; Netto, Alice Brinckmann Oliveira; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Sanseverino, Maria Teresa Vieira; Souza, Carolina Fischinger Moura de; Wilke, Matheus Vernet Machado Bressan; Oliveira, Thiago; Magalhães, Jose Antonio de Azevedo; Giugliani, Roberto (2022) [Artigo de periódico]
      Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood ...
    • Monitoring of phenylalanine levels in patients with phenylketonuria using dried blood spots : a comparison of two methods 

      Sebastião, Fernanda Medeiros; Burin, Maira Graeff; Civallero, Gabriel Eduardo Santiago; Tirelli, Kristiane Michelin; Sitta, Angela; Coelho, Daniella de Moura; Vargas, Carmen Regla; Wajner, Moacir; Giugliani, Roberto; Bitencourt, Fernanda Hendges de; Schwartz, Ida Vanessa Doederlein (2020) [Artigo de periódico]
      Phenylketonuria (PKU) is caused by deficient activity of phenylalanine hydroxylase (PAH), responsible for the conversion of phenylalanine (Phe) to tyrosine (Tyr). Monitoring of patients with PKU requires the measurement ...
    • Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1 

      Paskulin, Lívia D'Avila; Starosta, Rodrigo Tzovenos; Zizemer, Vitória Schütt; Basgalupp, Suelen Porto; Bertholdo, Débora; Vairo, Filippo Pinto e; Siebert, Marina; Tirelli, Kristiane Michelin; Schwartz, Ida Vanessa Doederlein (2019) [Artigo de periódico]
      Introduction:Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia,thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenicvariants ...
    • Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: report from a reference laboratory 

      Giugliani, Roberto; Federhen, Andressa; Tirelli, Kristiane Michelin; Riegel, Mariluce; Burin, Maira Graeff (2017) [Artigo de periódico]
      Lysosomal storage diseases (LSDs) comprise a heterogeneous group of more than 50 genetic conditions of inborn errors of metabolism (IEM) caused by a defect in lysosomal function. Although there are screening tests for some ...
    • The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease 

      Koppe, Tiago de Bone; Doneda, Divair; Siebert, Marina; Paskulin, Lívia D'Avila; Camargo, Matheus Brunstein; Tirelli, Kristiane Michelin; Vairo, Filippo Pinto e; Daudt, Liane Esteves; Schwartz, Ida Vanessa Doederlein (2016) [Artigo de periódico]
      The clinical utility of serum ferritin as a biomarker of disease severity and prognosis in Gaucher disease (GD) is still debated. Here, we aimed to evaluate ferritin and its relation to clinicolaboratory parameters of GD ...
    • Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions 

      Josahkian, Juliana Alves; Trapp, Franciele Barbosa; Burin, Maira Graeff; Tirelli, Kristiane Michelin; Magalhães, Ana Paula Pereira Sholz de; Sebastião, Fernanda Medeiros; Bender, Fernanda; De Mari, Jurema de Fatima; Facchin, Ana Carolina Brusius; Leistner-Segal, Sandra; Málaga, Diana Elizabeth Rojas; Giugliani, Roberto (2021) [Artigo de periódico]
      The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by 11 enzyme deficiencies, classified into seven types. Data on the birth prevalence of each MPS type are available for only a few countries, ...