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14 in total

1. Structural basis of the GM2 gangliosidosis B variant.

Authors: Fumiko Matsuzawa; Sei-ichi Aikawa; Hitoshi Sakuraba; Hoang Thi Ngoc Lan; Akemi Tanaka; Kousaku Ohno; Yuko Sugimoto; Haruaki Ninomiya; Hirofumi Doi
Journal: J Hum Genet Date: 2003-10-24 Impact factor: 3.172

2. Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

Authors: Ladislav Kuchař; Befekadu Asfaw; Helena Poupětová; Jitka Honzíková; František Tureček; Jana Ledvinová
Journal: Clin Chim Acta Date: 2013-07-06 Impact factor: 3.786

3. Hexosaminidase assays.

Authors: Michaela Wendeler; Konrad Sandhoff
Journal: Glycoconj J Date: 2009-11 Impact factor: 2.916

4. Establishment of immortalized Schwann cells from Sandhoff mice and corrective effect of recombinant human beta-hexosaminidase A on the accumulated GM2 ganglioside.

Authors: Mai Ohsawa; Masaharu Kotani; Youichi Tajima; Daisuke Tsuji; Yasuhiro Ishibashi; Aya Kuroki; Kohji Itoh; Kazuhiko Watabe; Kazunori Sango; Shoji Yamanaka; Hitoshi Sakuraba
Journal: J Hum Genet Date: 2005-09-23 Impact factor: 3.172

5. Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.

Authors: Keisuke Kitakaze; Yasumichi Mizutani; Eiji Sugiyama; Chikako Tasaki; Daisuke Tsuji; Nobuo Maita; Takatsugu Hirokawa; Daisuke Asanuma; Mako Kamiya; Kohei Sato; Mitsutoshi Setou; Yasuteru Urano; Tadayasu Togawa; Akira Otaka; Hitoshi Sakuraba; Kohji Itoh
Journal: J Clin Invest Date: 2016-03-28 Impact factor: 14.808

6. Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu→Lys, p.318Trp→Cys) arylsulfatase A mutations.

Authors: Adem Özkan; Hatice Asuman Özkara
Journal: Intractable Rare Dis Res Date: 2016-11

7. Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

Authors: Akemi Tanaka; Lan Thi Ngcok Hoang; Yasuaki Nishi; Satoshi Maniwa; Makio Oka; Tsunekazu Yamano
Journal: J Hum Genet Date: 2003-10-18 Impact factor: 3.172

8. Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.

Authors: R M Boustany; W H Qian; K Suzuki
Journal: Am J Hum Genet Date: 1993-10 Impact factor: 11.025

9. GM1-gangliosidosis (genetic beta-galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients.

Authors: J Nishimoto; E Nanba; K Inui; S Okada; K Suzuki
Journal: Am J Hum Genet Date: 1991-09 Impact factor: 11.025

Review 10. Diagnosis of inherited metabolic disorders affecting the nervous system.

Authors: P D Swanson
Journal: J Neurol Neurosurg Psychiatry Date: 1995-11 Impact factor: 10.154