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| Santos,Cláudia Maria Carvalho dos; Correia,Patrícia Santana; Rosa,Antônio Abílio Santa; Vaniazzi,Elde; Coelho,Janice Carneiro; Burin,Maira Graeff; Giugliani,Roberto; Fensom,Anthony H.; Oliveira,Cesário Paulo Honório de; Oliveira,Maria Lúcia Costa de; Llerena Jr.,Juan Clinton. |
| We present the first case of an early infantile form of galactosialidosis among Brazilians. This very rare and severe lysosomal storage disease has only a dozen patients clearly diagnosed worldwide. Clinical, pathological and biochemical features were consistent with previously published findings. We detected the disorder in a 7-month-old female baby with prenatal diagnosis of ascites. Evolution of the storage disease was monitored through routine thin-layer chromatography (TLC) for urinary oligosaccharides as part of a screening program for inborn errors of metabolism (IEM) in high-risk children, carried out in Rio de Janeiro. |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000400005 |
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| Coelho,Janice Carneiro; Giugliani,Roberto. |
| Skin biopsies are frequently indicated for investigation and/or confirmation of genetic disorders. Although relatively simple and noninvasive, these procedures require care in order to increase probability of success and to avoid patient discomfort and unnecessary repeated analyses and associated laboratory fees. The present report highlights the importance of skin biopsies in genetic disorder diagnosis and presents general rules for collecting, storing, transporting and processing samples. We recommend its reading to professionals intending to use this important and sometimes fundamental diagnostic tool. |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200004 |
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| Baiotto,Cléia; Sperb,Fernanda; Matte,Ursula; Silva,Cláudia Dornelles da; Sano,Renata; Coelho,Janice Carneiro; Giugliani,Roberto. |
| Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 blood donors were tested for the presence of two common mutations (1622-1627insG and R59H) in the GLB1 gene. Another group, consisting of 26 GM1 patients, and the blood donors were tested for the presence of two polymorphisms (R521C and S532G), in an attempt to elucidate whether there is a founder effect. The frequencies of the R59H and 1622-1627insG mutations among the GM1 patients studied were 19.2% and 38.5%, respectively. The frequency of polymorphism S532G... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: GM1 gangliosidosis; Beta-galactosidase; GLB1 gene; Founder effect; Linkage disequilibrium. |
| Ano: 2011 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000100009 |
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| Muller,Maria Viviane Gomes; Petry,André; Vianna,Luciene Pinheiro; Breier,Ana Carolina; Michelin-Tirelli,Kristiane; Pires,Ricardo Flores; Trindade,Vera Maria Treis; Coelho,Janice Carneiro. |
| Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in clinical research laboratories. Comparison of the glucosylceramide content in plasma from Gaucher disease patients, submitted to enzyme replacement therapy or otherwise, against that from normal individuals was also carried out. The glucosylceramide, separated from other glycosphingolipids by high performance thin layer chromatography (HPTLC) was chemically developed (CuSO4 / H3PO4) and the respective band confirmed by immunostaining (human anti-glucosylceramide antibody / peroxidase-conjugated secondary... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Glucosylceramide; Blood plasma analysis; Gaucher disease. |
| Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1984-82502010000400005 |
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