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51篇 您的检索式：作者名="THONY B"

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	题名	作者	年代	出处	被引量
1	Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia显示文摘	BONAFE L THONY B PENZIEN J M	2001	Am J Med Genet2001，69，2：	1
2	Tetrahydrobiopterin and inherited hyperphenylalaninemias显示文摘	BLAU N THONY B SPADA M	1996	The Turk J Pediatr1996，38，：	1
3	Mutations in the sepiapterin reductase gene cause a novel tetra hydrobiopterin dependent monoamine neurotransmitter deficiency without hyperphenylalaninemia 显示文摘	Bonafe L Thony B Penzien J M	2001	The American Journal of Human Genetics2001，69，2：	1
4	Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts显示文摘	Bonafe L Thony B Leimbacher W	2001	Clin Chem2001，47，3：	1
5	Mutations in the BH4-metabolizing genes GTP cyclohydrolase I,6-pyruvoyl-tetrahydropterin synthase,sepiapterin reductase,carbinolamine-4a-dehydratase,and dihydropteridine reductase显示文摘	Thony B Blau N	2006	Hum Mutat2006，27，：	1
6	Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency显示文摘	Blau N Bonafe L Thony B	2001	Molecular genetics and metabolism2001，74，1：	1
7	Tetrahydrobiopterin deficiency:from phenotype to genotype显示文摘	Blau N Thony B Heizmann C W	1993	J Child Neurol1993，4，：	1
8	Tetrahydrobiopterin biosynthesis,regeneration and functions显示文摘	Thony B Auerbach G Blau N	2000	Biochem J2000，347，1：	1
9	Tetrahydrobiopterin biosynthesis, regeneration, and functions 显示文摘	Thony B Auerbach G Blare N	2000	Biochem J2000，347，1：	1
10	Human 6- pyruvoyl-tetrahdropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme 显示文摘	Thony B Leimbacher W Burgisser D	1992	Bioehem Biophys Res Commun1992，189，3：	1
11	Tetrahydrobiopterin hiosynthesis, regeneration and functions显示文摘	Thony B Auerbach C Blau N	2000	BiochemJ2000，347，：	1
12	Tetrahydrobiopterin and inherited hyperphenyla-laninemias显示文摘	Blau N Thony B Spada M	1996	Tur J Pediatr1996，38，：	1
13	Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl tetrahydropterin synthase显示文摘	Thony B Leimbacher W Blau N	1994	Am J Hum Genet1994，54，5：	1
14	Tetrahydrobiopterin: biochemis- try and pathophysiology显示文摘	Werner ER Blau N Thony B	2011	Biochem J2011，438，3：	1
15	T Tetrahydrobiopterin biosynthesis,regeneration and functions显示文摘	Thony B Auerbach G Blau N	2000	Biochem J2000，347，：	1
16	Administration-route and gender-inde- pendent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudo- typed vector-mediated gene transfer显示文摘	Ding Z Georgiev P Thony B	2006	Gene Ther2006，13，7：	1
17	Identificaton of mutations causing 6-pyruvoyl tetrahydropterin synthase deficiency in four Italian families显示文摘	Oppliger T Thony B Kluge C	1997	Hum Mutat1997，10，1：	1
18	Retrovirus-mediated gene transfer of 6-pyruvoyl tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients显示文摘	Thony B Leimbacher W Stuhlmann H	1996	Hum Gene Ther1996，7，13：	1
19	Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia显示文摘	Bonafe L Thony B Penzien J M	2001	Am J Hum Genet2001，69，2：	1
20	Concurrent evolution of nitrogenase genes and 16S rRNA in Rhizobium species and other nitrogen-fixing bacteria显示文摘	Hennecke H Kaluza K Thony B	1985	Archives of Microbiology1985，142，：	1

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