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20篇 您的检索式：作者名="Guffon"

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	题名	作者	年代	出处	被引量
1	Safety and efficacy of recombinant human α-galactosidase A-replacement therapy in Fabry's disease显示文摘	Eng CM Guffon N Wilcox WR	2001	N Engl J Med2001，345，1：	1
2	Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stern cell sourees 显示文摘	Souillet G Guffon N Maire I	2003	Bone Marrow Transplant2003，31，12：	1
3	Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources 显示文摘	Souillet G Guffon N Maire I	2003	Bone Marrow Transplant2003，31，12：	1
4	Long-term safety and efficacy of enzyme replacement therapy for Fabry disease显示文摘	Wilcox WR Banikazemi M Guffon N	2004	Am J Hum Genet2004，75，1：	1
5	Mucopolysaccharidosls type Ⅱ-genotype/phenotype aspects 显示文摘	FROISSART R MOREIRA DA SILVA I GUFFON N	2002	Acta Paediatr Suppl2002，91，439：	1
6	Safety and efficacy of recombinant human o-galactosidase A replacement therapy in fabry 's disease 显示文摘	Eng CM Guffon N Wilcox WR	2001	N Engl J Med2001，345，：	1
7	A new neonatal case of N-acetylglutamate syn- thase deficiency treated by carbamylglutamate 显示文摘	GUFFON N VIANEY-SABAN C BOURGEOIS J	1995	Journal of Inherited Metabolic Disease1995，18，1：	1
8	Clinical presentation in female patients with Fabry disease显示文摘	Guffon N	2003	J Med Genet2003，40，4：	1
9	Outcome of 27 patients with Hurler′s syndrome transp lanted from either related or unrelated haematopoietic stem cell sources显示文摘	Souillet G Guffon N Maire I		0，，12：	1
10	Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease显示文摘	Guffon N Wilcox WR	2001	N Engl J Med2001，345，：	1
11	Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study显示文摘	Wraith JE Guffon N Rohrbach M	2009	Mol Genet Metab2009，98，：	1
12	Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease显示文摘	Eng CM Guffon N Wilcox WR	2001	N Engl J Med2001，345，：	1
13	Long-term safety and efficacy of enzyme replacement therapy for Fabry disease显示文摘	Wilcox WR Banikazemi M Guffon N	2004	Am J Hum Genet2004，75，1：	1
14	Long-term safetv and efficacy of enzyme replacement therapy for Fabry disease显示文摘	Wilcox WR Banikazemi M Guffon N	2004	Am J Hum Genet2004，75，1：	1
15	Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources显示文摘	Souillet G Guffon N Maire I Pujol M Taylor P Sevin F	2003	Bone Marrow Transplant2003，31，12：	1
16	Long-term safety and efficacy of enzyme replacement therapy for Fabry disease显示文摘	Wilcox WR Banikazemi M Guffon N	2004	Am J Hum Genet2004，75，1：	1
17	Safety and efficacy of recombinant human ot-galactosidase A: replacement therapy in Fabry's disease显示文摘	Eng CM Guffon N Wilcox WR	2001	N Engl J Med2001，345，1：	1
18	A new neonatal case of N-acetylglutamate synthase deficiency treated by earbamylglutamate显示文摘	Guffon N Vianey-Saban C Bourgeois J	1995	J Inherit Metab Dis1995，，18：	1
19	Long-term safety and eftieacy of enzyme replacement therapy for Fabry disease显示文摘	Wilcox WR Banikazemi M Guffon N	2004	Am J Hum Genet2004，75，1：	1
20	N-氨甲酰基-L-谷氨酸测试新生儿高氨血症显示文摘In a prospective study, patients with a suspected urea cycle defect underwent oral N-carbamoyl-L-glutamic acid loading testing. In patients with subsequent ly confirmed N-acetyl-gltamate synthase deficiency, hyperammonemia normalized within 8 hours. This t est may be useful in the early diagnosis of patients with suspected urea cycle d isorders.	Guffon N. Schiff M. Cheillan D. 贺文龙	2006	世界核心医学期刊文摘(儿科学分册)2006，0，1：	0

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