Literature DB >> 19655016

Expanded newborn screening: Lessons learned from MCAD deficiency.

Sarah Dyack1.   

Abstract

Entities:  

Year:  2004        PMID： 19655016      PMCID： PMC2720504          DOI： 10.1093/pch/9.4.241

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN： 1205-7088            Impact factor:   2.253


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  15 in total

1.  Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel.

Authors:  Ralph P Insinga; Ronald H Laessig; Gary L Hoffman
Journal:  J Pediatr       Date:  2002-10       Impact factor: 4.406

2.  Cost-benefit analysis of universal tandem mass spectrometry for newborn screening.

Authors:  Edgar J Schoen; John C Baker; Christopher J Colby; Trinh T To
Journal:  Pediatrics       Date:  2002-10       Impact factor: 7.124

3.  Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.

Authors:  C J Wilson; M P Champion; J E Collins; P T Clayton; J V Leonard
Journal:  Arch Dis Child       Date:  1999-05       Impact factor: 3.791

4.  Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.

Authors:  I Yokota; Y Indo; P M Coates; K Tanaka
Journal:  J Clin Invest       Date:  1990-09       Impact factor: 14.808

5.  Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Authors:  J L Van Hove; W Zhang; S G Kahler; C R Roe; Y T Chen; N Terada; D H Chace; A K Iafolla; J H Ding; D S Millington
Journal:  Am J Hum Genet       Date:  1993-05       Impact factor: 11.025

6.  Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.

Authors:  R J Pollitt; J V Leonard
Journal:  Arch Dis Child       Date:  1998-08       Impact factor: 3.791

7.  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

8.  Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

Authors:  Bridget Wilcken; Veronica Wiley; Judith Hammond; Kevin Carpenter
Journal:  N Engl J Med       Date:  2003-06-05       Impact factor: 91.245

9.  Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.

Authors:  D H Chace; S L Hillman; J L Van Hove; E W Naylor
Journal:  Clin Chem       Date:  1997-11       Impact factor: 8.327

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

1.  Newborn screening in Canada - Are we out of step?

Authors:  William B Hanley
Journal:  Paediatr Child Health       Date:  2005-04       Impact factor: 2.253

2.  Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.

Authors:  Chitra Prasad; Kathy N Speechley; Sarah Dyack; Charles A Rupar; Pranesh Chakraborty; Jonathan B Kronick
Journal:  Paediatr Child Health       Date:  2012-04       Impact factor: 2.253

3.  Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling.

Authors:  Chourouk Mansour; Yasmine Ouarezki; Jeremy Jones; Moira Fitch; Sarah Smith; Avril Mason; Malcolm Donaldson
Journal:  Arch Dis Child       Date:  2017-06-09       Impact factor: 3.791

4.  Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  Rebecca C Ahrens-Nicklas; Louise C Pyle; Can Ficicioglu
Journal:  Genet Med       Date:  2016-05-05       Impact factor: 8.822
  4 in total

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