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16篇 您的检索式：作者名="Pomponio RJ"

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		题名	作者	年代	出处	被引量
	1	Delayed-onset profound biotinidase deficiency显示文摘	Wolf B Pomponio RJ Norrgard KJ	1998	J Pediatr1998，132，2：	1
	2	Profound biotinidase deficiency in two asymptomatic adults显示文摘	Wolf B Norrgard K Pomponio RJ	1997	Am J Med Genet1997，73，1：	1
	3	Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR显示文摘	Mutter GL Pomponio RJ	1991	Nucleic Acids Res1991，19，：	1
	4	The sex ratio of normal and manipulated human sperm quantitated by the polymerase chain reaction显示文摘	Lobel SM Pomponio RJ and Mutter GL	1993	Fertil Steril1993，59，2：	1
	5	Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating 显示文摘	Kroos M Pomponio RJ van Vliet L	2008	Hum Mutat2008，29，：	1
	6	Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children显示文摘	Norrgard KJ Pomponio RJ Hymes J Wolf B	1999	Pediatr Res1999，46，1：	1
	7	Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating显示文摘	Kroos M Pomponio RJ van Vliet L	2008	Hum Mutat2008，29，：	1
	8	Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency显示文摘	Pomponio RJ Reynolds TR Cole H	1995	Nat Genet1995，11，1：	1
	9	Novel mutations cause biotinidase deficiency in Turkish children显示文摘	Pomponio RJ Coskun T Demirkol M	2000	J Inherit Metab Dis2000，23，2：	1
	10	Novel mutations in children with profound biotinidase deficiency from Saudi Arabia显示文摘	Pomponio RJ Ozand PT Al Essa M	2000	J Inherit Metab Dis2000，23，2：	1
	11	Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States显示文摘	Norrgard KJ Pomponio RJ Swango KL	1997	Biochem Mol Med1997，61，1：	1
	12	Double mutation (A171T and D444H) is a common csuse of profound biotinidase deficiency in children ascertained by newborn screening the the United States显示文摘	Norrgard KJ Pomponio RJ Swango KL	1998	Hum Mutat1998，11，5：	1
	13	Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children显示文摘	Norrgard KJ Pomponio RJ Hymes J	1999	Pediatr Res1999，46，1：	1
	14	Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency显示文摘	Pomponio RJ Yamaguchi A Arashima S	1998	Mol Genet Metab1998，64，2：	1
	15	Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3'splice acceptor site within an exon of the human biotinidase gene显示文摘	Pomponio RJ Reynolds TR Mandel H	1997	Hum Mol Genet1997，6，5：	1
	16	Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure显示文摘	Pomponio RJ Narasimhan V Reynolds TR	1996	Hum Mol Genet1996，5，10：	1

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