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19篇 您的检索式:作者名="DONATI MA"
    题名 作者 年代 出处 被引量
1Peritoneal dialysis in neonales with inborn errors of metabolism: is it really out of date显示文摘PELA I SERACINI D DONATI MA 2008Pediatr Nephrol2008,23,1:1
2Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation显示文摘Bertini E Donati MA Broda P 2005Neuropediatrics2005,36,5:1
3MR imaging features for improved diagnosis of hepatocellular carcinoma in the non-cirrhotic liverz multi-center evaluation 显示文摘Fischer MA Raptis DA Donati OF 2015Eur JRadiol2015,84,10:1
4Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency 显示文摘Morrone A Malvagia S Donati MA Funghini S Ciani F Pela I 2002Am J Med Genet2002,111,1:1
5Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency 显示文摘Morrone A Malvagia S Donati MA 2002Am J Med Genet2002,111,1:1
6Peritoneal dialysis in neonates with inborn errors of metabolism is it really out of date显示文摘Pela I Seracini D Donati ma 2008Pediatr Nephrol2008,23,1:1
7Beta-galactosidase gene mutafions affecting the lysosomal enzyme and the elastin-hinding protein in GM1-gangliosidosis patients with cardiac involvement 显示文摘Monvne A Bardelli T Donati MA 2000Hum Murat2000,15,:1
8Short-and long-term induction of basic fibroblast growth factor gene expression in rat central nervous system following kainate injection显示文摘Riva MA Donati E Tascedda F 1994Neuroscience1994,59,:1
9Genetic andbiochemical approach to early prenatal diagnosis in a family withmut methylmalonic aciduria显示文摘Cavicchi C Donati MA Funghini S 2006Clin Genet2006,69,1:1
10Clinical findings and biochemical and molecular analysis of four patients with holccarboxylase synthetase deficiency显示文摘Morrone A Malvagia S Donati MA 2002Am J Med Genet2002,111,1:1
113-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene 显示文摘Funghini S Pasquini E Cappellini M Donati MA Morrone A Fonda C 2001Mol Genet Metab2001,73,3:1
12Effect of ramipril in a patient with glycogen storage disease typeⅠand nephritic-range proteinuria显示文摘Pela I Donati MA Zammarchi E 2001J Inherit Metab Dis2001,24,6:1
13Two-versus three- dimensional dual gradient-echo MRI of the liver: a tech- nical comparison显示文摘Fischer MA Donati OF Chuck N 2013Eur Radiol2013,23,2:1
14Different genotypes in a large Italian family with recurrent hereditary fructose intolerance 显示文摘Caciotti A Donati MA Adami A 2008Eur J Gastroenterol Hepatol2008,20,2:1
15Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency显示文摘Morrone A Malvagia S Donati MA Funghini S Ciani F Pela I 2002Am J Med Genet2002,111,1:1
16Short-and long-term induction of basic fibroblast growth factor gene expression in rat central nervous system following kainate injection显示文摘Riva MA Donati E Tascedda F 1994Neuroscience1994,59,1:1
17Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in Fibroblasts from GM 1-Gangliosidosis patients 显示文摘Caciotti A Donati MA Bardelli T 2005Am J Pathol2005,167,6:1
18Petit - oneal dialysis in neonates with inborn errors of metabolism: is it really out of date? 显示文摘Pela I Seracini D Donati MA 2008Pediatr Nephrol2008,23,1:1
19Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening显示文摘Funghini S Donati MA Pasquini E 2002J Inherit Metab Dis2002,25,4:1
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