【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...
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 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....
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 ...
We observed two sisters with lupus-like syndrome with homozygous C3 deficiencies. A 19-year-old woman and her 15-year-old sister developed malar rash, arth... Yuji,Sano,Hiroaki,... - 《Arthritis & Rheumatism》 被引量: 93发表: 1981年 ...
We report a retrospective analysis of 128 consecutive patients with high-risk myelodysplastic syndrome (MDS) and AML who received an alemtuzumab-based redu... A Ho,A Pagliuca,GJ Mufti,... - 《Bone Marrow Transplant》 被引量: 137发表: 2010年 Effective treatment of α-mannosidosis by allogene...
Atypical Gilles de la Tourette Syndrome With β-Mannosidase Deficiency BACKGROUND: beta-Mannosidosis is a rare inborn error of metabolism with various phenotypes, including mental retardation, behavioral problems, hearing loss... F Sedel,K Friderici,K Nummy,... - 《Archives of Neurology》 被引量...
Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients.anestheticLong QT syndromesyndactylyNo abstract is available for this article.doi:10.1111/j.1460-9592.2011.03668.xBlackwell Publishing LtdPediatric Anesthesia