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6 in total

Review 1. Gene therapy using haematopoietic stem and progenitor cells.

Authors: Giuliana Ferrari; Adrian J Thrasher; Alessandro Aiuti
Journal: Nat Rev Genet Date: 2020-12-10 Impact factor: 53.242

2. Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry.

Authors: Ryuichi Mashima; Mari Ohira; Torayuki Okuyama; Akiya Tatsumi
Journal: Mol Genet Metab Rep Date: 2017-12-21

3. Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs.

Authors: David S Millington; Deeksha M Bali
Journal: Mol Genet Metab Rep Date: 2017-05-10

4. Quantification of 11 enzyme activities of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry.

Authors: Mari Ohira; Torayuki Okuyama; Ryuichi Mashima
Journal: Mol Genet Metab Rep Date: 2018-09-07

5. Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Authors: Anna Tylki-Szymańska; Linda De Meirleir; Maja Di Rocco; Waseem M Fathalla; Nathalie Guffon; Christina Lampe; Allan M Lund; Rossella Parini; Frits A Wijburg; Jiri Zeman; Maurizio Scarpa
Journal: Acta Paediatr Date: 2018-08 Impact factor: 2.299

6. Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles.

Authors: Ryuichi Mashima; Torayuki Okuyama
Journal: Mol Genet Metab Rep Date: 2017-07-07

6 in total