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Miglustat (Zavesca)

Gaucher disease (GD) in patients unable to receive intravenous ERT, Niemann-Pick disease Type C ((NPC).

GD: 100 mg/kg/day TID.(124-127)

NPC: 200 mg TID.(128, 129)

100 mg capsule

PO

Thrombocytopenia,  weight loss,  abdominal pain, constipation, diarrhea, flatulence, nausea,  vomiting, cramp, leg cramp, asthenia, dizziness, headache, paresthesia, tremor, visual disturbance.

4

124. de Lonlay P, Seta N. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochimica et biophysica acta 2009;1792(9):841-3 doi: 10.1016/j.bbadis.2008.11.012[published Online First: Epub Date]|.

125. Niehues R, Hasilik M, Alton G, et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 1998;101(7):1414-20 doi: 10.1172/JCI2350[published Online First: Epub Date]|.

126. Dello Strologo L, Rizzoni G. Cystinuria. Acta Paediatr Suppl 2006;95(452):31-3 doi: 10.1080/08035320600649473[published Online First: Epub Date]|.

127. Knoll T, Zollner A, Wendt-Nordahl G, Michel MS, Alken P. Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up. Pediatr Nephrol 2005;20(1):19-24 doi: 10.1007/s00467-004-1663-1[published Online First: Epub Date]|.

128. Product information for Metanx Secondary Product information for Metanx http://www.metanx.com/learn-about-metanx/i-am-prescribed-metanx/.

129. van der Meer SB, Poggi F, Spada M, et al. Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia. J Pediatr 1994;125(6 Pt 1):903-8

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