- A new diagnostic assay for glycogen storage disease type II in mixed leukocytesToshika Okumiya
Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000DR Rotterdam, The Netherlands
Mol Genet Metab 88:22-8. 2006..0 allows for the specific measurement of lysosomal acid alphaGlu activity in mixed leukocytes, thus enabling a reliable diagnosis of glycogen storage disease type II in this specimen...
- Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type IIToshika Okumiya
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
Mol Genet Metab 90:49-57. 2007..Chemical chaperone therapy could create new perspectives for therapeutic intervention in GSDII...
- Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypesFumiko Matsuzawa
Celestar Lexico Sciences Inc, MTG 17, 1 3 Nakase, Chiba 261 8501, Japan
Hum Genet 117:317-28. 2005..This study demonstrated the correlation of structural changes, and clinical and biochemical phenotypes. Structural investigation is useful for elucidating the bases of Fabry disease and clinical treatment...
- Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"Youichi Tajima
Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan
J Hum Genet 52:898-906. 2007..Structural study on a mutant acid alpha-glucosidase in silico combined with biochemical investigation is useful for understanding the molecular pathology of Pompe disease...