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28篇 您的检索式:作者名="Leuzzi V"
    题名 作者 年代 出处 被引量
1Guanidinoaeetate and creatine plus ereatinine assessment in physiologic fluid:an effec- tive diagnostic tool for the biochemical diagaosis of arginino: glycine amidinotransferase and guanidinoaeetate methyhransferase deficien- cies显示文摘CARDUCCI C BIRARELLI M LEUZZI V 2002Clin them2002,48,10:1
2Biochemical,clinical and neuroradiological (MRI) correlations in late-detected PKU patients 显示文摘Leuzzi V Trasimeni G Gualdi GF 1995J Inherit Metab Dis1995,18,5:1
3Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonusdystonia syndrome显示文摘Leuzzi V Carducci C Carducci Cl 2002Neurology2002,59,8:1
4Genes of early-onset epileptic enceph- alopathies: from genotype to phenotype 显示文摘Mastrangelo M Leuzzi V 2012Pediatr Neurol2012,46,1:1
5Flavonoids in pigmented orange juice and secong-pressure显示文摘Leuzzi U Caristi C Panzera V Licandr G 2000J Agric Food Chem2000,48,11:1
6Executive function impairment in early-treated PKU subjects with normal mental development显示文摘Leuzzi V Pansini M Sechi E 2004J Inherit Metab Dis2004,27,2:1
7White matter pathology in phenylketonuria 显示文摘Anderson PJ Leuzzi V 2010Mol Genet Metab2010,99,1:1
8Biochemical,clinical and neuroradio-logical(MRI) correlations in late-detected PKU patients显示文摘Leuzzi V Trasimeni G Galdi GF 1995J Inherit Metab Dis1995,18,:1
9Executive function impairment in early-treated PKU subjects with normal mental development显示文摘Leuzzi V Pansini M Sechi E Chiarotti F Carducci C Levi G 2004J Inherit Metab Dis2004,27,2:1
10Molecular analysis of two novel Neisseria gonorrhoeae virulent components: the macrophage infectivity potentiator and the outer membrane protein A 显示文摘Stamino S Leuzzi R Ghisetti V 2010New Mic Robiol2010,33,2:1
11Genes of early-onset epileptic en- cephalopathies: from genotype to phenotype 显示文摘Mastrangelo M Leuzzi V 2012Pediatr Neu- rol2012,46,1:1
12Genes of early-onset epileptic encepha- lopathies: from genotype to phenotype显示文摘Mastrangelo M Leuzzi V 2012Pediatr Neurol2012,46,1:1
13White matter pathology in phenylketonuria显示文摘Anderson PJ Leuzzi V 2010Molecular genetics and metabolism2010,,:1
14Biochemical features of mtDNA T14484C (ND6/M64V) point mutation associated with Leber' s hereditary optic neuropathy显示文摘Carelli V Ghelli A Bucchi b Montagan P De Negri A Leuzzi V 0,,03:1
15Executive function impairment in early-treated PKU subjects with normal mental development显示文摘Leuzzi V Pansini M Sechi E 2004J Inherit Metab Dis2004,27,:1
16Clinical significance of brain phenyialamine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria显示文摘Leuzzi V Bianchi MC Tosetti M 2000J Inherit Metab Dis2000,23,6:1
17Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease显示文摘Battini R Alessandri M Leuzzi V 2006The Journal of Pediatrics2006,,148:1
18Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease 显示文摘Battini R Alessandri MG Leuzzi V 2006J Pediatr2006,,:1
19Biochemical,clinical and neuroradiological (MRI) correlations in late-detected PKU patients 显示文摘 Trasimeni G Gualdi GF 1995J Inherit Metab Dis1995,18,:1
20Executive function impairment in ear/y-treated PKU subjects with normal mental development显示文摘Leuzzi V Pansini M Sechi E 2004Inherit Metab Dis2004,27,:1
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