Navegação Ciências da Saúde por Autor "Tirelli, Kristiane Michelin"
Resultados 1-10 de 10
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Effect of one year of cryopreservation on the activity of lysosomal hydrolases from EBV-transformed lymphocytes
(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
(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
(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
(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
(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 ... -
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
(2022) [Artigo de periódico]Background Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin ... -
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
(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
(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
(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
(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, ...
