Enzyme replacement therapy in Filipino patients with Gaucher disease and Pompe disease / Mary Anne D. Chiong [and four others]

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Abstract: We present three Filipino patients who are on enzyme replacement therapy. Two patients with Gaucher disease have shown significant improvements in the hematologic, skeletal, liver and spleen findings during enzyme replacement therapy. One patient with Pompe disease, although less dramatic, showed notable improvements in fatigue severity scale, movements of some muscle groups, use of mechanical ventilation, and quality of life after two years of enzyme replacement therapy.

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	Journal Article	DOH Central Library Electronic Resource Section				J000094 (Browse shelf(Opens below))					Available			D0001J000094

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Previous	J000091 Measurement of performance of basic daily skills and assessment of motor function of Filipino adolescent and adult persons with down syndrome /	J000092 A five-year review of cases referred to the genetics clinic, PGH for findings of congenital anomalies on prenatal ultrasound /	J000093 Molecular analysis of the MUT gene in Filipino patients with methylmalonic acidemia /	J000094 Enzyme replacement therapy in Filipino patients with Gaucher disease and Pompe disease /	J000095 A Filipino child with dyskeratosis congenita with a C→T substitution on nucleotide 1085 of the DKC1 gene /	J000096 X-linked adrenoleukodystrophy in three Filipino families /	J000097 Complete sternal cleft in a Filipino newborn /	Next

We present three Filipino patients who are on enzyme replacement therapy. Two patients with Gaucher disease have shown significant improvements in the hematologic, skeletal, liver and spleen findings during enzyme replacement therapy. One patient with Pompe disease, although less dramatic, showed notable improvements in fatigue severity scale, movements of some muscle groups, use of mechanical ventilation, and quality of life after two years of enzyme replacement therapy.

In: Acta Medica Philippina, 2009 vol 43 (1) pages: 33-38

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