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42篇 您的检索式:作者名="D Matern"
    题名 作者 年代 出处 被引量
1In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector 显示文摘SCHOWALTER D B MATERN D VOCKLEY J 2005Mol Genet Metab2005,85,2:1
2Carnitine deficiency in OCTN2-/-newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response显示文摘Sonne S Shekhawat PS Matern D 2012PLoS One2012,7,47:1
3Reduction of the false- positive rate in newborn screening by implementation of MS/MS- based second-tier tests: the Mayo Clinic experience (2004-2007) 显示文摘Matern D Tortorelli S Oglesbee D 2007J Inherit Metab Dis2007,30,4:1
4Complications 显示文摘D'Antonio F Rijo C Thilaganathan B et aZAssociation between first-trimeste maternal serum pregnancy- associated lasma protein-A and obstetric 2013Prenatal Diagnosis2013,33,9:1
5Reduction of the false positive rate in newborn screening by implementation of MS/MS-based second-tier testing : the Mayo Clinic experience (2004-2007) 显示文摘D Matern 2007Inherit Metab Dis2007,30,:1
6Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting显示文摘Lindner M Hoffmann GF Matern D 2010J Inherit Metab Dis2010,33,5:1
7Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-de?cient jvs (OCTN2-/-) mice 显示文摘Shekhawat P S Srinivas S R Matern D 2007Mol Genet Metab2007,92,:1
8Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency显示文摘Matern D Hart P Murtha AP 2001J Pediatr2001,138,7:1
9Acylcarnitine analysis by tandem mass spectrome- try显示文摘Smith EH Matern D 2010Curr Protoc Hum Gene2010,17,8:1
10Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening显示文摘Sarafoglou K Matern D Redlinger-Grosse K 2011Pediatrics2011,128,1:1
11Serum screening for fetal Down syndrome : clinical aspects 显示文摘Sailer D N Jr Canick J A Maternal 1996Clin Obstet Gynecol1996,39,4:1
12Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screen- ing on their diagnosis and management 显示文摘Shekhawat PS Matern D Strauss AW 2005Pediatr Res2005,57,:1
13Newborn screening for disorders of fatty-acid oxidation: experience and recom- mendations from an expert meeting 显示文摘Lindner M Hoffmann GF Matern D 2010J Inherit Metab Dis2010,33,5:1
14Early neonatal diagnosis of long-chain 3-hydroxyaeyl eoenzyme a dehydrogenase and mitochondrial trifunetional protein deficiencies显示文摘Hintz SR Matern D Strauss A 2002Mol Genet Metab2002,75,:1
15Clinical and experimental allergy 显示文摘Rochat MK Ege MJ Plabst D et ah Maternal vitamin D in- take during pregnancy increases gene expression of ILT3 and ILT4 in cord blood 2010Journal of the British Society for Allergy and Clinical Immunology2010,40,5:1
16Molecular cloning, induction and taxonomic distribution of caffeoyl-CoA 3-O-methyltransferase, an enzyme involved in disease resistance显示文摘Schmitt D Pakusch AE Matern U 1991Biological Chemistry1991,266,17:1
17Live transplantation for glycogen storage disease type Ⅰ,Ⅱ,Ⅲ and Ⅳ显示文摘Matern D Starzl TE Arnaout W 1999Eur J Pediatr1999,,:1
18A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency显示文摘Arnold GL Koeberl DD Matern D 2008Mol Genet Metab2008,93,:1
19Fetal fatty acid oxida- tion disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management显示文摘Shekhawat PS Matern D Strauss AW 2005Pediatr Res2005,57,52:1
20Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007) 显示文摘Matern D Tortorelli S Oglesbee D 2007J Inherit Metab Dis2007,30,4:1
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