Literature DB >> 16737864

Newborn screening for metabolic disorders.

Deborah Marsden1, Cecilia Larson, Harvey L Levy.   

Abstract

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Year:  2006        PMID： 16737864     DOI： 10.1016/j.jpeds.2005.12.021

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  11 in total

1.  Expanded newborn screening in Europe 2007.

Authors:  O A Bodamer; G F Hoffmann; M Lindner
Journal:  J Inherit Metab Dis       Date:  2007-07-23       Impact factor: 4.982

Review 2.  Newborn screening and renal disease: where we have been; where we are now; where we are going.

Authors:  J Lawrence Merritt; David Askenazi; Si Houn Hahn
Journal:  Pediatr Nephrol       Date:  2011-09-27       Impact factor: 3.714

3.  Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Authors:  Imen Ben-Rebeh; Jozef L Hertecant; Fatma A Al-Jasmi; Hanan E Aburawi; Said A Al-Yahyaee; Lihadh Al-Gazali; Bassam R Ali
Journal:  Genet Test Mol Biomarkers       Date:  2011-11-22

4.  Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Authors:  Susan E Waisbren; Yuval Landau; Jenna Wilson; Jerry Vockley
Journal:  Dev Disabil Res Rev       Date:  2013

Review 5.  Insights into the pathogenesis and treatment of cancer from inborn errors of metabolism.

Authors:  Ayelet Erez; Oleg A Shchelochkov; Sharon E Plon; Fernando Scaglia; Brendan Lee
Journal:  Am J Hum Genet       Date:  2011-04-08       Impact factor: 11.025

6.  Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Authors:  S E Waisbren; H L Levy; M Noble; D Matern; N Gregersen; K Pasley; D Marsden
Journal:  Mol Genet Metab       Date:  2008-08-03       Impact factor: 4.797

7.  Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008.

Authors:  Hissa Moammar; George Cheriyan; Revi Mathew; Nouriya Al-Sannaa
Journal:  Ann Saudi Med       Date:  2010 Jul-Aug       Impact factor: 1.526

8.  Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Authors:  Rodolfo Tonin; Anna Caciotti; Silvia Funghini; Elisabetta Pasquini; Sean D Mooney; Binghuang Cai; Elena Proncopio; Maria Alice Donati; Federico Baronio; Ilaria Bettocchi; Alessandra Cassio; Giacomo Biasucci; Andrea Bordugo; Giancarlo la Marca; Renzo Guerrini; Amelia Morrone
Journal:  BBA Clin       Date:  2016-03-10

9.  A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Authors:  Wenjie Wang; Jianping Yang; Jinjie Xue; Wenjuan Mu; Xiaogang Zhang; Wang Wu; Mengnan Xu; Yuyan Gong; Yiqian Liu; Yu Zhang; Xiaobing Xie; Weiyue Gu; Jigeng Bai; David S Cram
Journal:  BMC Med Genet       Date:  2019-01-06       Impact factor: 2.103

10.  Metabolomics reveals effects of maternal smoking on endogenous metabolites from lipid metabolism in cord blood of newborns.

Authors:  Ulrike E Rolle-Kampczyk; Jan Krumsiek; Wolfgang Otto; Stefan W Röder; Tibor Kohajda; Michael Borte; Fabian Theis; Irina Lehmann; M von Bergen
Journal:  Metabolomics       Date:  2016-03-08       Impact factor: 4.290
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