Abstract
The follow-up of Gaucher's patients under enzyme replacement therapy is generally based both on the clinical aspects and the evaluation of haematological parameters: haemoglobin level, platelet count, acid and alkaline phosphatase activities. Spleen and liver volumes are also reliable criteria for evaluating the improvement of the patients. The determination of glycolipid excretion in the urine and/or the quantification of glycolipids in serum can also be a useful tool for the screening and the follow up of patients with lysosomal storage disease including Gaucher's disease. In this paper we report the follow-up of three patients with Gaucher type 3; in order to test the efficacy of the enzyme replacement therapy with alglucerase in these patients, we evaluated the urine and plasma glucosylceramide content as a marker parallel to the clinical improvement and the decreased organomegaly.
| Original language | English |
|---|---|
| Pages (from-to) | 151-161 |
| Number of pages | 11 |
| Journal | Clinica Chimica Acta |
| Volume | 271 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Mar 23 1998 |
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Keywords
- Enzyme replacement therapy
- Gaucher type 3
- Serum analysis
- Urine analysis
ASJC Scopus subject areas
- Biochemistry
- Clinical Biochemistry
Cite this
Total glycolipid and glucosylceramide content in serum and urine of patients with Gaucher's disease type 3 before and after enzyme replacement therapy. / Gornati, Rosalba; Bembi, Bruno; Tong, Xiaowei; Boscolo, Rita; Berra, Bruno.
In: Clinica Chimica Acta, Vol. 271, No. 2, 23.03.1998, p. 151-161.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Total glycolipid and glucosylceramide content in serum and urine of patients with Gaucher's disease type 3 before and after enzyme replacement therapy
AU - Gornati, Rosalba
AU - Bembi, Bruno
AU - Tong, Xiaowei
AU - Boscolo, Rita
AU - Berra, Bruno
PY - 1998/3/23
Y1 - 1998/3/23
N2 - The follow-up of Gaucher's patients under enzyme replacement therapy is generally based both on the clinical aspects and the evaluation of haematological parameters: haemoglobin level, platelet count, acid and alkaline phosphatase activities. Spleen and liver volumes are also reliable criteria for evaluating the improvement of the patients. The determination of glycolipid excretion in the urine and/or the quantification of glycolipids in serum can also be a useful tool for the screening and the follow up of patients with lysosomal storage disease including Gaucher's disease. In this paper we report the follow-up of three patients with Gaucher type 3; in order to test the efficacy of the enzyme replacement therapy with alglucerase in these patients, we evaluated the urine and plasma glucosylceramide content as a marker parallel to the clinical improvement and the decreased organomegaly.
AB - The follow-up of Gaucher's patients under enzyme replacement therapy is generally based both on the clinical aspects and the evaluation of haematological parameters: haemoglobin level, platelet count, acid and alkaline phosphatase activities. Spleen and liver volumes are also reliable criteria for evaluating the improvement of the patients. The determination of glycolipid excretion in the urine and/or the quantification of glycolipids in serum can also be a useful tool for the screening and the follow up of patients with lysosomal storage disease including Gaucher's disease. In this paper we report the follow-up of three patients with Gaucher type 3; in order to test the efficacy of the enzyme replacement therapy with alglucerase in these patients, we evaluated the urine and plasma glucosylceramide content as a marker parallel to the clinical improvement and the decreased organomegaly.
KW - Enzyme replacement therapy
KW - Gaucher type 3
KW - Serum analysis
KW - Urine analysis
UR - http://www.scopus.com/inward/record.url?scp=0032559778&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0032559778&partnerID=8YFLogxK
U2 - 10.1016/S0009-8981(97)00241-6
DO - 10.1016/S0009-8981(97)00241-6
M3 - Article
C2 - 9565330
AN - SCOPUS:0032559778
VL - 271
SP - 151
EP - 161
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
IS - 2
ER -