Literature DB >> 11388605

Neonatal screening for medium chain acyl-CoA deficiency: high incidence in Lower Saxony (northern Germany).

S Sander, N Janzen, B Janetzky, S Scholl, U Steuerwald, J Schäfer, J Sander.   

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Year:  2001        PMID： 11388605     DOI： 10.1007/pl00008439

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

1.  Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.

Authors: 
Journal:  Ont Health Technol Assess Ser       Date:  2003-05-01

2.  The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.

Authors:  S Sirrs; C Hollak; M Merkel; A Sechi; E Glamuzina; M C Janssen; R Lachmann; J Langendonk; M Scarpelli; T Ben Omran; F Mochel; M C Tchan
Journal:  JIMD Rep       Date:  2015-10-09

3.  Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

Authors:  T G J Derks; T S Boer; A van Assen; T Bos; J Ruiter; H R Waterham; K E Niezen-Koning; R J A Wanders; J M M Rondeel; J G Loeber; L P Ten Kate; G P A Smit; D-J Reijngoud
Journal:  J Inherit Metab Dis       Date:  2008-01-14       Impact factor: 4.982

4.  Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.

Authors:  Françoise F Hamers; Catherine Rumeau-Pichon
Journal:  BMC Pediatr       Date:  2012-06-08       Impact factor: 2.125

5.  Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  Hye In Woo; Hyung-Doo Park; Yong-Wha Lee; Dong Hwan Lee; Chang-Seok Ki; Soo-Youn Lee; Jong-Won Kim
Journal:  Korean J Lab Med       Date:  2011-01

6.  Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

Authors:  Serena Catarzi; Anna Caciotti; Janita Thusberg; Rodolfo Tonin; Sabrina Malvagia; Giancarlo la Marca; Elisabetta Pasquini; Catia Cavicchi; Lorenzo Ferri; Maria A Donati; Federico Baronio; Renzo Guerrini; Sean D Mooney; Amelia Morrone
Journal:  ScientificWorldJournal       Date:  2013-10-31
  6 in total

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