全部文献期刊会议图书|学者科研项目
中外文文献  中文文献  外文文献
作者:Conceição Bettencourt , Vincenzo Salpietro , Stephanie Efthymiou ...
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients.
作者:Katherine Johnson , Ana Töpf , Marta Bertoli ...
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:Late-onset Pompe disease is a rare genetic neuromuscular disorder caused by a primary deficiency of α-glucosidase and the associated accumulation of glycogen in lysosomal vacuoles. The deficiency of α-glucosidase can often be detected using an inexpensive and readily accessi...
作者:Thomas Morel , Stefan J. Cano
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:Our ability to evaluate outcomes which genuinely reflect patients’ unmet needs, hopes and concerns is of pivotal importance. However, much current clinical research and practice falls short of this objective by selecting outcome measures which do not capture patient value to...
作者:Cathy Lally , Cynthia Jones , Wildon Farwell ...
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:Spinal muscular atrophy (SMA) is a progressive, devastating disease and a leading inherited cause of infant mortality. The limited population-based literature is confined to small regional studies. Estimates of prevalence are needed to characterize the burden of SMA and to u...
作者:Jianying Xi , Chong Yan , Wei-Wei Liu ...
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:Congenital myasthenic syndrome caused by mutations in AGRN , a gene encoding a protein with a crucial function at the neuromuscular junction, is a rare disorder. There are few studies in this area. We here present two cases with novel mutations of AGRN of which we further investi...
作者:Robert E. Brown , Senthil Senniappan , Khalid Hussain ...
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:We first introduced the concept of the mTOR pathway’s involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and di...
作者:John W. Frew , Mark Davidson , Dedee F. Murrell
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:Health Related Quality of Life (HR-QoL) Patient reported outcome measures (PROMs) have high utility in evaluation of new interventions in genodermatoses, however inconsistent standards of development and validation have hampered widespread acceptance and adoption.
作者:Kuo-Hsuan Chang , Yih-Ru Wu , Chiung-Mei Chen
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:Huntington’s disease (HD), caused by expansion of a polyglutamine tract within HUNTINGTIN (HTT) protein, is an autosomal dominant neurodegenerative disease associated with a progressive neurodegeneration of striatum and cerebral cortex. Although a few studies have identified...
作者:Ying Zhu , Zhi Cheng , Jing Wang ...
来源:[J].Orphanet Journal of Rare Diseases(IF 4.315), 2017, Vol.12 (1)
摘要:The etiology of Müllerian duct anomalies (MDAs) is poorly understood at present. The HOXA11 gene is crucial for the development of the Müllerian duct. The objective of this study is to report a unique case of MDAs with a novel mutation in HOXA11 .

我们正在为您处理中,这可能需要一些时间,请稍等。

资源合作:cnki.scholar@cnki.net, +86-10-82896619   意见反馈:scholar@cnki.net

×