Literature DB >> 11777783

Screening for inherited metabolic disease in newborn infants using tandem mass spectrometry.

James V Leonard, Carol Dezateux.   

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Year:  2002        PMID： 11777783      PMCID： PMC1121944          DOI： 10.1136/bmj.324.7328.4

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


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  14 in total

1.  Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated. .

Authors:  S Tanner; M Sharrard; M Cleary; J Walter; E Wraith; P Lee; J Leonard; A Morris; N McIntosh
Journal:  BMJ       Date:  2001-01-13

Review 2.  Intercurrent illness in inborn errors of intermediary metabolism.

Authors:  M A Dixon; J V Leonard
Journal:  Arch Dis Child       Date:  1992-11       Impact factor: 3.791

Review 3.  Neonatal screening for inborn errors of metabolism: cost, yield and outcome.

Authors:  R J Pollitt; A Green; C J McCabe; A Booth; N J Cooper; J V Leonard; J Nicholl; P Nicholson; J R Tunaley; N K Virdi
Journal:  Health Technol Assess       Date:  1997       Impact factor: 4.014

Review 4.  Newborn screening for inborn errors of metabolism: a systematic review.

Authors:  C A Seymour; M J Thomason; R A Chalmers; G M Addison; M D Bain; F Cockburn; P Littlejohns; J Lord; A H Wilcox
Journal:  Health Technol Assess       Date:  1997       Impact factor: 4.014

5.  Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.

Authors:  K Carpenter; V Wiley; K G Sim; D Heath; B Wilcken
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2001-09       Impact factor: 5.747

6.  Using tandem mass spectrometry for metabolic disease screening among newborns. A report of a work group.

Authors: 
Journal:  MMWR Recomm Rep       Date:  2001-04-13

7.  Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  M Pourfarzam; A Morris; M Appleton; A Craft; K Bartlett
Journal:  Lancet       Date:  2001-09-29       Impact factor: 79.321

8.  Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.

Authors:  B S Andresen; S F Dobrowolski; L O'Reilly; J Muenzer; S E McCandless; D M Frazier; S Udvari; P Bross; I Knudsen; R Banas; D H Chace; P Engel; E W Naylor; N Gregersen
Journal:  Am J Hum Genet       Date:  2001-05-08       Impact factor: 11.025

9.  Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.

Authors:  P T Clayton; M Doig; S Ghafari; C Meaney; C Taylor; J V Leonard; M Morris; A W Johnson
Journal:  Arch Dis Child       Date:  1998-08       Impact factor: 3.791

10.  Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

Authors:  A K Iafolla; R J Thompson; C R Roe
Journal:  J Pediatr       Date:  1994-03       Impact factor: 4.406
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  4 in total

Review 1.  Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.

Authors:  Carol Dezateux
Journal:  Eur J Pediatr       Date:  2003-11-20       Impact factor: 3.183

Review 2.  Ethical issues in newborn screening and the impact of new technologies.

Authors:  Bridget Wilcken
Journal:  Eur J Pediatr       Date:  2003-11-14       Impact factor: 3.183

3.  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

4.  Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Authors:  Georg F Hoffmann; Rüdiger von Kries; Daniela Klose; Martin Lindner; Andreas Schulze; Ania C Muntau; Wulf Röschinger; Bernhard Liebl; Ertan Mayatepek; Adelbert A Roscher
Journal:  Eur J Pediatr       Date:  2004-01-09       Impact factor: 3.183
  4 in total

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