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51篇 您的检索式：作者名="Desnick"

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	题名	作者	年代	出处	被引量
1	Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease显示文摘	Donna L. Bernstein Helena Hülkova Martin G. Bialer Robert J. Desnick	2013	Journal of Hepatology2013，，6：	2
2	Enzyme replacement and beyond 显示文摘	Desnick RJ	2001	J Inherit Metab Dis2001，24，2：	1
3	The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with 1 - 2 and 2 - 2 isozymes 显示文摘	Wetmur JG Lehnert G Desnick RJ	1991	Environ Res1991，56，：	1
4	Theδ-aminolevulinate dehydratase polymorphism:Higher bloodlead levels in lead worker sand environmentally exposed children with the 1-2and 2-2isozymes显示文摘	Wetmur JG Lehnert G Desnick RJ	1991	Environ Res1991，56，：	1
5	Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing di- alysis?显示文摘	Banikazemi M Desnick RJ	2006	Nature Clinical Practice Nephrology2006，2，2：	1
6	Enzyme replacement and beyond显示文摘	Desnick R J	2001	J Inherit Metadol Dis2001，24，2：	1
7	Enzyme replacement and enhancement therapy for lysosomal disease 显示文摘	Desnick RJ	2004	J Inherit Metab Dis2004，27，3：	1
8	Enzyme therapy in Fabry disease:differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic α-galactosidase A isozymes显示文摘	Desnick RJ Dean KJ Grabowski G	1979	Proc Natl Acad Sci USA1979，76，10：	1
9	显示文摘	Desnick RJ	1972	Proc Clin Dial Transplant1972，2，：	1
10	The deha-aminolevulinate de- hydratase polymorphism : higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes 显示文摘	Wetmur J G Lehnert G Desnick R J	1991	Environ Res1991，56，2：	1
11	Bone density in Type 1 Gaucher disease显示文摘	Pastores GM Wallenstein S Desnick RJ		0，，11：	1
12	Congenital erythropoietic poJTh,,'ria advances in pathogenesis and treatment 显示文摘	DesnickeR J Astrin KH	2002	Br J ttermatol2002，117，4：	1
13	Enzyme replacement and enhancement therapies for lysosomal diseases显示文摘	Desnick RJ	2004	J Inherit Metab Dis2004，27，：	1
14	The 8-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1 2 and 2-2 isozymes显示文摘	Wetmur JG Lehnert G Desnick RJ	1991	Environmental Research1991，56，：	1
15	Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann - Pick disease显示文摘	Desnick JP Kim J He X	2010	Mol Med2010，16，78：	1
16	Congenital erythropoietic porphyria: advances in pathogenesis and treatment显示文摘	Desnick R J Astrin KH	2002	Br J Haematol2002，117，4：	1
17	Purification and properties of uroporphyrinogen I synthase from human erythroctes显示文摘	Anderson P M Desnick R J	1980	J Biol Chem1980，255，：	1
18	Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation显示文摘	Harada FA Shwayder TA Desnick RJ	2001	J Am Acad Dermatol2001，45，2：	1
19	Pycnodysostosis,a lysosomal disease caused by cathepsin K deficiency显示文摘	Gelb BD Shi GP Chapman HA Desnick RJ		0，，：	1
20	The δ-aminolevulinate dehydratase polymorphism: Higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes显示文摘	Lehnert G Desnick RJ	1991	Environ Res1991，56，：	1

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