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| Koppe,Tiago; Doneda,Divair; Siebert,Marina; Paskulin,Livia; Camargo,Matheus; Tirelli,Kristiane Michelin; Vairo,Filippo; Daudt,Liane; Schwartz,Ida Vanessa D.. |
| Abstract 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 patients seen at the Reference Center for Gaucher Disease of Rio Grande do Sul, Brazil, so as to gather evidence on the utility of ferritin as a biomarker of this condition. A retrospective chart review was performed collecting pre-and posttreatment data from GD patients. Eighteen patients with ferritin levels available before and after treatment were included in the study. Nine of these participants were males, and seventeen had type I GD. All patients were given either enzyme replacement (n = 16) or substrate reduction therapy... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Ferritin; Biomarkers; Gaucher disease; Iron metabolism. |
| Ano: 2016 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000100030 |
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| Artigalás,Osvaldo; Paskulin,Giorgio; Riegel,Mariluce; Burin,Maira; Saraiva-Pereira,Maria Luiza; Maluf,Sharbel; Kiss,Andrea; Schwartz,Ida Vanessa D.. |
| A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudodeficiency ARSA allele and a de novo apparently balanced t(16;22)(p11.2;q13) translocation. A deletion on the long arm of chromosome 22 encompassing the ARSA gene, as shown by FISH and array-CGH, indicated a 22q13 deletion syndrome. This case illustrates the importance of detailed cytogenetic investigation in patients presenting low arylsulfatase A activity and atypical/unspecific clinical features. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: 22q13 deletion; Apparently balanced translocation; ARSA gene; Arylsulfatase A pseudodeficiency; Metachromatic leukodystrophy. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000300007 |
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