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Minimal disease activity in Gaucher disease: criteria for definition.
Di Rocco M, Andria G, Bembi B, Carubbi F, Giona F, Giuffrida G, Linari S, Sibilio M, Spina V, Cappellini MD. Di Rocco M, et al. Mol Genet Metab. 2012 Nov;107(3):521-5. doi: 10.1016/j.ymgme.2012.08.009. Epub 2012 Aug 17. Mol Genet Metab. 2012. PMID: 22954583
Gaucher disease type I is a metabolic disorder caused by a genetic deficiency of lysosomal beta-glucocerebrosidase that leads to accumulation of glucocerebroside in macrophages, thus causing damage in different organ systems. ...Therefore, the concept of mini …
Gaucher disease type I is a metabolic disorder caused by a genetic deficiency of lysosomal beta-glucocerebrosidase that …
Evaluation of the Nutritional Status of Gaucher Disease Type I Patients under Enzyme Replacement Treatment.
Iaccarino Idelson P, Speranza E, Marra M, Pasanisi F, Sammarco R, Galletti F, Strazzullo P, Barbato A. Iaccarino Idelson P, et al. Nutrients. 2022 Aug 3;14(15):3180. doi: 10.3390/nu14153180. Nutrients. 2022. PMID: 35956356 Free PMC article.
(1) Background: Gaucher disease (GD) is a rare lysosomal storage disease. The few studies analyzing Resting Energy Expenditure (REE) in GD involved mainly untreated patients and supported a hypermetabolic condition possibly due to the associated inflammatory …
(1) Background: Gaucher disease (GD) is a rare lysosomal storage disease. The few studies analyzing Resting Energy Expe …
The impact of Gaucher disease and its treatment on quality of life.
Hayes RP, Grinzaid KA, Duffey EB, Elsas LJ 2nd. Hayes RP, et al. Qual Life Res. 1998 Aug;7(6):521-34. doi: 10.1023/a:1008878425167. Qual Life Res. 1998. PMID: 9737142
To obtain information about how Gaucher disease and its treatment, specifically enzyme replacement therapy, affect patients' health-related quality of life (HRQoL), we interviewed 16 patients with type I Gaucher disease (range 8-67 years) …
To obtain information about how Gaucher disease and its treatment, specifically enzyme replacement therapy, affect pati …
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years.
Hollak CE, Belmatoug N, Cole JA, Vom Dahl S, Deegan PB, Goldblatt J, Rosenbloom B, van Dussen L, Tylki-Szymańska A, Weinreb NJ, Zimran A, Cappellini MD. Hollak CE, et al. Br J Haematol. 2012 Aug;158(4):528-38. doi: 10.1111/j.1365-2141.2012.09175.x. Epub 2012 May 29. Br J Haematol. 2012. PMID: 22640238 Free article.
The characteristics of Gaucher disease (GD) associated with persistent thrombocytopenia despite imiglucerase enzyme therapy in type 1 GD (GD1) were investigated by retrospective analysis of International Collaborative Gaucher Group (ICGG) Regist …
The characteristics of Gaucher disease (GD) associated with persistent thrombocytopenia despite imiglucerase enzyme therapy …
Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.
Sibille A, Eng CM, Kim SJ, Pastores G, Grabowski GA. Sibille A, et al. Am J Hum Genet. 1993 Jun;52(6):1094-101. Am J Hum Genet. 1993. PMID: 8503443 Free PMC article.
Gaucher disease type 1 is characterized by marked variability of the phenotype and by the absence of neuronopathic involvement. ...These predictive genotype analyses provide the basis for genetic care delivery and therapeutic recommendations in …
Gaucher disease type 1 is characterized by marked variability of the phenotype and by the absence of neuronopathic invo …
Cellular Uptake of Glucocerebrosidase in Gaucher Patients Receiving Enzyme Replacement Treatment.
Gras-Colomer E, Martínez-Gómez MA, Moya-Gil A, Fernandez-Zarzoso M, Merino-Sanjuan M, Climente-Martí M. Gras-Colomer E, et al. Clin Pharmacokinet. 2016 Sep;55(9):1103-13. doi: 10.1007/s40262-016-0387-2. Clin Pharmacokinet. 2016. PMID: 27083470
BACKGROUND: Enzyme replacement therapy (ERT) is currently the standard treatment for patients with Gaucher disease type I (GD1), but the pharmacokinetics have hardly been studied. ...It showed that intra-leukocyte activity at baseline and at 15 min pos …
BACKGROUND: Enzyme replacement therapy (ERT) is currently the standard treatment for patients with Gaucher disease t …
A new severity score index for phenotypic classification and evaluation of responses to treatment in type I Gaucher disease.
Di Rocco M, Giona F, Carubbi F, Linari S, Minichilli F, Brady RO, Mariani G, Cappellini MD. Di Rocco M, et al. Haematologica. 2008 Aug;93(8):1211-8. doi: 10.3324/haematol.12379. Epub 2008 Jul 4. Haematologica. 2008. PMID: 18603565 Free article.
BACKGROUND: Gaucher disease is the first lysosomal storage disease for which specific therapy became available. Over 4800 patients have been treated with enzyme replacement therapy. Analysis of Gaucher disease registry data has out …
BACKGROUND: Gaucher disease is the first lysosomal storage disease for which specific therapy became available. …
Changes of serum hexosaminidase for the presumptive diagnosis of type I Gaucher disease in Tay-Sachs carrier screening.
Nakagawa S, Kumin S, Sachs G, Nitowsky HM. Nakagawa S, et al. Am J Med Genet. 1983 Mar;14(3):525-32. doi: 10.1002/ajmg.1320140316. Am J Med Genet. 1983. PMID: 6859103
Although reduced acid beta-glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, patients with this disorder also have marked elevation of serum acid phosphatase and beta-hexosaminidase activities but with a normal level of l …
Although reduced acid beta-glucosidase activity appears to be the primary enzyme defect in type I Gaucher disease, pati …