scholarly journals New Variant Mutation of Glucosylceramidase Beta (GBA) and Early Enzyme Replacement Therapy for Neuronopathic Gaucher Disease: A Case Report and Literature Review

2020 ◽  
Vol 30 (2) ◽  
Author(s):  
Daiji Takajo ◽  
Hiroshi Matsumoto ◽  
Takahiro Noguchi ◽  
Naoto Nishimura ◽  
Shigeaki Nonoyama
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Enzyme Replacement ◽  
New Variant

scholarly journals Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report

2016 ◽  
Vol 10 (1) ◽  
Author(s):  
Gaetano Giuffrida ◽  
Rita Lombardo ◽  
Ernesto Di Francesco ◽  
Laura Parrinello ◽  
Francesco Di Raimondo ◽  
...  
Keyword(s):  
Case Report ◽  
Enzyme Replacement Therapy ◽  
Adult Patient ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Enzyme Replacement ◽  
Type 1 Gaucher Disease

IgM monoclonal component associated with type I Gaucher disease resolved after enzyme replacement therapy: A case report

2009 ◽  
Vol 32 (S1) ◽  
pp. 265-267 ◽  
Author(s):  
C. Martinez-Redondo ◽  
F. J. Ortuño ◽  
M. L. Lozano ◽  
A. Jerez ◽  
M. del Mar Osma ◽  
...  
Keyword(s):  
Case Report ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Type I ◽  
Enzyme Replacement ◽  
Monoclonal Component

RESPONSE TO ENZYME REPLACEMENT THERAPY IN PATIENTS WITH GAUCHER DISEASE TYPE I

2019 ◽  
Vol 22 (06) ◽  
pp. 103-117
Author(s):  
Mays Al-Tai ◽  
Deia Al-Asady ◽  
Rula Hamid
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
Disease Type ◽  
Type I ◽  
Enzyme Replacement

scholarly journals Quantification of glucosylceramide in plasma of Gaucher disease patients

2010 ◽  
Vol 46 (4) ◽  
pp. 643-649 ◽  
Author(s):  
Maria Viviane Gomes Muller ◽  
André Petry ◽  
Luciene Pinheiro Vianna ◽  
Ana Carolina Breier ◽  
Kristiane Michelin-Tirelli ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Thin Layer ◽  
Replacement Therapy ◽  
Gaucher Disease ◽  
High Performance ◽  
Treatment Monitoring ◽  
Secondary Antibody ◽  
Enzyme Replacement ◽  
Normal Individuals ◽  
Layer Chromatography

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 antibody). Chromatogram quantification by densitometry demonstrated that the glucosylceramide content in Gaucher disease patients was seventeen times higher than that in normal individuals, and seven times higher than that in patients on enzyme replacement therapy. The results obtained indicate that the methodology established can be used in complementary diagnosis and for treatment monitoring of Gaucher disease patients.

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