【佳学基因检测】3MC综合征(3MC syndrome)基因解码、基因检测【佳学基因检测】MBD5相关神经发育障碍(MAND)基因解码、基因检测【佳学基因检测】下颌骨发育不良(Mandibuloacral dysplasia)基因解码、基因检测【佳学基因检测】特雷彻柯林斯综合征(Treacher Collins syndrome)基因解码、基因检测【佳学基因检测】曼尼托巴眼睛头...
In four of the described patients search for organic causes of the syndrome was performed, but revealed only negative findings. Because of the limited number of cases no firm conclusion about the benefit of various psychotropic drugs can be drawn from our observation....
Hurler-like syndrome had been known for a number of years when the Swedish physician Öckerman in Lund described a 4 year old boy with a Hurler-like phenotype in 1967 [1]. He died at the age of 4 from pneumonia, and in his tissues appeared large amounts of oligosaccharide material with...
In the brother and sister, described by Ara et al., at the age of 27 and 29 years, respectively, neurological changes such as cerebellar syndrome, hearing loss and mental retardation were the leading clinical signs; except in the sisters’s speech capacity, over a period time of 25 years ...
There is no standard of care for patients with advanced forms of mycosis fungoides, S茅zary syndrome and other less common subtypes of primary cutaneous T-... RF Duarte,N Schmitz,O Servitje,... - 《Bone Marrow Transplantation》 被引量: 162发表: 2008年 Intermediate dose of imatinib in comb...
In the brother and sister, described by Ara et al., at the age of 27 and 29 years, respectively, neurological changes such as cerebellar syndrome, hearing loss and mental retardation were the leading clinical signs; except in the sisters’s speech capacity, over a period time of 25 years ...
In four of the described patients search for organic causes of the syndrome was performed, but revealed only negative findings. Because of the limited number of cases no firm conclusion about the benefit of various psychotropic drugs can be drawn from our observation.D....
Mannosidosis, a systemic lysosomal storage disease first described by Ockerman (22), is characterized by psychomotor retardation, a facial dysmorphia resembling that of the Hurler syndrome, dysostosis multiplex, hepatosplenomegaly, hearing loss, recurrent infections and autosomal recessive inheritance. The...