Publications:

Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.

Iranian Journal Of Public Health

Aryan, H H; Aryani, O O; Banihashemi, K K; Zaman, T T; Houshmand, M M

Publication Date: 2012

Variant appearance in text: HEXA: C522Y

PubMed Link: 23113155

Variant Present in the following documents:

• ijph-41-112.pdf

View BVdb publication page

Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease.

Plos One

Kodama, Takashi T; Togawa, Tadayasu T; Tsukimura, Takahiro T; Kawashima, Ikuo I; Matsuoka, Kazuhiko K; Kitakaze, Keisuke K; Tsuji, Daisuke D; Itoh, Kohji K; Ishida, Yo-Ichi Y; Suzuki, Minoru M; Suzuki, Toshihiro T; Sakuraba, Hitoshi H

Publication Date: 2011

Variant appearance in text: HEXA: C522Y

PubMed Link: 22205997

Variant Present in the following documents:

• pone.0029074.pdf

View BVdb publication page