Homozygous p. R284* mutation in HEXB gene causing Sandhoff disease with nystagmus
A Masri, J Liao, R Kornreich, A Haghighi - European Journal of Paediatric …, 2014 - Elsevier
Sandhoff disease is a rare, genetic, lipid storage disorder characterized by progressive
degeneration of the nerve cells (neurons) in the brain and spinal cord. This disease is …
degeneration of the nerve cells (neurons) in the brain and spinal cord. This disease is …
Genetic disorders in Qatar
AS Teebi, T Ben-Omran - Genetic disorders among Arab populations, 2010 - Springer
Qatar occupies a small peninsula that extends into the Persian Gulf from the eastern side of
the Arabian Peninsula (Fig. 18.1). Saudi Arabia is to the west and the United Arab Emirates …
the Arabian Peninsula (Fig. 18.1). Saudi Arabia is to the west and the United Arab Emirates …
[CITATION][C] Sandhoff disease in an extreme preterm baby with bilateral syndactyly
F Bataclan, A Ganesh - Neurosciences Journal, 2003 - nsj.org.sa
andhoff disease (GM2 gangliosidosis) is much less common than Tay-Sachs disease. Both
are autosomal recessive lysosomal storage disorders (GM gangliosidoses). But Sandhoff …
are autosomal recessive lysosomal storage disorders (GM gangliosidoses). But Sandhoff …
一例婴儿型 Sandhoff 病家系的基因诊断与产前诊断
吴桐菲， 李溪远， 王峤， 刘玉鹏， 丁圆， 宋金青… - 浙江大学学报: 医学 …, 2013 - cqvip.com
目的: 通过对一例婴儿型Sandhoff 病男婴及其家系的临床, 基因与产前诊断研究,
探讨本病的诊断与产前诊断方法. 方法: 患儿男, 生后易惊, 易呛咳, 8 个月起精神运动倒退, 无力 …
探讨本病的诊断与产前诊断方法. 方法: 患儿男, 生后易惊, 易呛咳, 8 个月起精神运动倒退, 无力 …
婴儿型 Sandhoff 病 1 例报告并文献复习
詹丽萍， 李栋方， 李平甘， 梁立阳， 罗向阳… - 临床儿科 …, 2017 - jcp.xinhuamed.com.cn
目的探讨婴儿型Sandhoff 病的临床表现, 诊断及治疗. 方法回顾分析1 例婴儿型Sandhoff
病患儿的临床资料, 并复习相关文献. 结果1 岁2 个月女性患儿, 有神经运动发育倒退 …
病患儿的临床资料, 并复习相关文献. 结果1 岁2 个月女性患儿, 有神经运动发育倒退 …
[CITATION][C] Genetic disorders in Arab populations: Qatar
T Ben-Omran, W Abdul - Genetic Disorders in the Arab World, Qatar, 2012
