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24篇 您的检索式：作者名="Bembi"

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	题名	作者	年代	出处	被引量
1	婴儿广泛性动脉钙化症:存活期延长的两兄妹显示文摘In generalized arterial calcification of infancy(OMIM no.208000),calcificat ion of the media and proliferation of the intima lead to arterial stenoses.Most affected patients present with untreatable arterial hypertension and die within the first months of life.The disease has recently been linked to mutations in ENPP1.We report two siblings with prolonged survival,both of whom carry the co mpound heterozygous ENPP1 mutations C.913C > A and c.1164+2T > A.In both sibli ngs,spontaneous regression of arterial calcifications occurred,and antihyperte nsive treatment could be tapered off gradually.In some patients,the natural co urse of GACI may be more favourable than previously assumed.	Ciana G. Trappan A. Bembi B. F.Rutsch 高蕊	2006	世界核心医学期刊文摘(儿科学分册)2006，2，8：	2
2	Diagnosis of glycogenosis type Ⅱ 显示文摘	Bembi B Cerini E Danesino C	2008	Neurology2008，71，232：	1
3	Gaueher disease and bone manifestations 显示文摘	GEMMA MARCUCCI ARI ZIMRAN BRUNO BEMBI	2014	Calcif Tissue lnt2014，95，6：	1
4	Prevalence of peripheral arterial disease in a cohort of diabetic patient显示文摘	Bembi V Singh S Singh P		0，，06：	1
5	Clinical foilow-up in a group of Gaucher type I patients switching enzyme replacement therapy from imiglucerase to velaglucerase 显示文摘	BEMBI B SECHI A DARDIS A	2013	Mol Genet Metab2013，108，2：	1
6	Niemann-pick type C disease:mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts显示文摘	Tarugi P G Ballarini B Bembi C		0，，11：	1
7	Recommendations on the diagnosis and management of Niemann-Pick disease type C显示文摘	Wraith JE Baumgartner MR Bembi B	2009	Mol Genet Metab2009，98，12：	1
8	Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts显示文摘	Susanna Lualdi Maria G. Pittis Stefano Regis Rossella Parini Anna E. Allegri Francesca Furlan Bruno Bembi Mirella Filocamo	2006	Journal of Molecular Medicine2006，，8：	1
9	Gaucher's disease with Parkinson's disease:clinical and pathological aspects显示文摘	Bembi B Zambito Marsala S Sidransky E	2003	Neurology2003，61，1：	1
10	Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type M 显示文摘	Bembi B Pisa FE Confalonieri M	2010	J Inherit Metab Dis2010，33，6：	1
11	A prospective,cross-sectional survey study of the natural history of Niemann-Pick disease type B显示文摘	McGovern MM Wasserstein MP Giugliani R Bembi B Vanier MT Mengel E		0，，：	1
12	Profile of eliglustat tartratein the management of Gaucher disease显示文摘	SECHI A DARDIS A BEMBI B	2016	Ther Clin RiskManag2016，11，1：	1
13	Recombinant human acid 13 - glueosidase stored in tobacco seed is stable, active and taken up by human fibroblasts 显示文摘	Reggi S Marchetti S Patti T Amicis F D Cariati R Bembi B Fogher C	2005	Plant Molecular Biology January2005，57，1：	1
14	Management of neuronopathic Gaucher disease: a Europoan consensus 显示文摘	Vellodi A Bembi B de Villemeur TB	2001	J Inherit Metab Dis2001，24，：	1
15	Gaueher's disease with Parkinson's disease: clinical and pathological aspects显示文摘	Bembi B Zambito Marsala S Sidransky E	2003	Neurology2003，61，1：	1
16	Generalized arterial calcification of infancy:Two siblings with prolonged survival显示文摘	Ciana G Trappan A Bembi B		0，，4：	1
17	Intravenous pamidronate treatment in osteogenesis imperfecta显示文摘	Bembi B Parma A Bottega M	1997	J Pediatr1997，131，：	1
18	Gaucher's disease with Parkinson's disease: clinical and pathological as- pects显示文摘	Bembi B Zambito-Marsala S Sidransky E	2003	Neurology2003，61，1：	1
19	Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type 显示文摘	Bembi B Pisa FE Confalonieri M	2010	J Inherit Metab Dis2010，33，6：	1
20	Gaucher's disease with Parkinson's disease:clinical and pathological aspects 显示文摘	Bembi B Zambito Marsala S Sidransky E	2003	Neurology2003，61，1：	1

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