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21篇 您的检索式：作者名="Trefz FK"

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	题名	作者	年代	出处	被引量
1	Macrocephaly as the initial manifestation of glutaryl-CoA-dehydrogenasedeficiency(glutaricaciduriatypeⅠ)显示文摘	Trefz FK Hoffmann GF Mayatepek E		0，，11：	1
2	Successful treatment of phenylketonuria with tetrahydrobiopterin显示文摘	Trefz FK Aulehla-Scholz C Blau N	2001	Eur J Pediatr2001，160，5：	1
3	Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria显示文摘	Trefz FK Blau N	2003	Pediatrics2003，112，62：	1
4	Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria显示文摘	Trefz FK Blau N		0，，06：	1
5	Efficacy of sapropterin dihydrochloride ( tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase Ⅲ randomised placebocontrolled study显示文摘	Levy HL Milanowski A Chakrapani A Cleary M Lee P Trefz FK	2007	Lancet2007，370，9586：	1
6	Ventricular septal defect closure in a neonate with combined methylmalonic acidur- ia/homocystinuria 显示文摘	Heinemann MK Tomaske M Trefz FK	2001	Ann Thorac Surg2001，72，4：	1
7	V entricular septal defect closure in a neonate with combined methylmalonic acidur- ia/homocystinuda 显示文摘	Heinemann MK Tomaske M Trefz FK	2001	Ann Thorac Surg2001，72，4：	1
8	Ventricular septal detect closure in a neonate with combined methylamlonic aciduria/ homocystinuria显示文摘	Heinemann MK Tomaske M Trefz FK	2001	Ann Thorac Surg2001，72，4：	1
9	Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase Ⅲ, randomized, double-blind, placebo-controlled Study 显示文摘	Trefz FK Burton BK Longo N	2009	J Pediatr2009，154，5：	1
10	Final intelligence in late treated patients with phenylketonuria显示文摘	Trefz FK Cipcic-Sehmidt S Koch R	2000	Eur J Pediatr2000，，：	1
11	Successful treatment of phenylketonuria with tetrahydrobiopterin显示文摘	Trefz FK Aulehla-Scholz C Blau N	2001	Eur J Pediatr2001，160，5：	1
12	Potential role of tetrahydrobiopterin in the treatment of maternal phenylketonuria显示文摘	Trefz FK Blau N	2003	Pediatrics2003，112，62：	1
13	3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy显示文摘	Bischof F Nagele T Wanders R J Trefz FK Melms A	2004	Ann Neurol2004，56，5：	1
14	Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria 显示文摘	Heinemann MK Tomaske M Trefz FK	2001	Ann Thorac Surg2001，72，4：	1
15	Final intelligence in late treated patients with phenylketonuria显示文摘	Trefz FK Cipcic-Schmidt S Korh R	2000	Ear J Pediatr2000，159，2：	1
16	Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homo- cvstinuria显示文摘	Heinemann MK Tomaske M Trefz FK	2001	Ann Thorae Surg2001，72，4：	1
17	Ventrieular septal defect closure in a neonate with combined methylmalonie aeiduria/homocystinuria显示文摘	Heinemann MK Tomaske M Trefz FK	2001	Ann Thorac Surg2001，72，4：	1
18	Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria 显示文摘	Heinemann MK Tomaske M Trefz FK Bosk A Baden W Ziemer G	2001	Ann Thorac Surg2001，72，4：	1
19	Tetrahydroniopterin-responsive phenylalanine hydroxylase deficiency:possible regulation of gene expression in a patient with the homozygous L48S mutation显示文摘	Blau N Trefz FK	2002	Mol Genet Metab2002，75，2：	1
20	RFLP-patterns in Japanese PKU families: new polymorphisms for the mutant phenylalanine hydroxylase gene显示文摘	Trefz FK Yoshino M Nishiyori A	1990	Hum Genet1990，85，：	1

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