Literature DB >> 8598647

Common MCAD mutation in a healthy parent of two affected siblings.

L E Heptinstall1, J Till, J E Wraith, G T Besley.   

Abstract

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Year:  1995        PMID： 8598647     DOI： 10.1007/bf02436011

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

Review 1.  Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.

Authors:  Y Matsubara; K Narisawa; K Tada
Journal:  Eur J Pediatr       Date:  1992-03       Impact factor: 3.183

2.  Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.

Authors:  M Duran; M Hofkamp; W J Rhead; J M Saudubray; S K Wadman
Journal:  Pediatrics       Date:  1986-12       Impact factor: 7.124

3.  Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.

Authors:  M J Bennett; M C Ragni; R J Ostfeld; R Santer; E Schmidt-Sommerfeld
Journal:  Ann Clin Biochem       Date:  1994-01       Impact factor: 2.057
  3 in total
  6 in total

Review 1.  Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Authors:  T F Lang
Journal:  J Inherit Metab Dis       Date:  2009-10-11       Impact factor: 4.982

Review 2.  L-Carnitine.

Authors:  J H Walter
Journal:  Arch Dis Child       Date:  1996-06       Impact factor: 3.791

3.  Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.

Authors:  Gwendolyn Gramer; Gisela Haege; Junmin Fang-Hoffmann; Georg F Hoffmann; Claus R Bartram; Katrin Hinderhofer; Peter Burgard; Martin Lindner
Journal:  JIMD Rep       Date:  2015-05-05

4.  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

5.  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

Review 6.  Hypoglycaemia related to inherited metabolic diseases in adults.

Authors:  Claire Douillard; Karine Mention; Dries Dobbelaere; Jean-Louis Wemeau; Jean-Marie Saudubray; Marie-Christine Vantyghem
Journal:  Orphanet J Rare Dis       Date:  2012-05-15       Impact factor: 4.123
  6 in total

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