Literature DB >> 17604202

Newborn screening: After the thrill is gone.

Jerry Vockley1.   

Abstract

Expanded newborn screening for inborn errors of metabolism by tandem mass spectrometry has raised the stakes for specialists in metabolic medicine. New disorders and a broader clinical spectrum of disease call for new paradigms in approaching inborn errors of metabolism. The Society for Inherited Disorders has been at the forefront of advances in newborn screening for manyyears and faces new challenges in meeting new needs.

Entities:  

Mesh：

Year:  2007        PMID： 17604202      PMCID： PMC2768350          DOI： 10.1016/j.ymgme.2007.05.012

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  39 in total

Review 1.  Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics.

Authors:  K M Dipple; E R McCabe
Journal:  Am J Hum Genet       Date:  2000-05-01       Impact factor: 11.025

2.  2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.

Authors:  K M Gibson; T G Burlingame; B Hogema; C Jakobs; R B Schutgens; D Millington; C R Roe; D S Roe; L Sweetman; R D Steiner; L Linck; P Pohowalla; M Sacks; D Kiss; P Rinaldo; J Vockley
Journal:  Pediatr Res       Date:  2000-06       Impact factor: 3.756

3.  Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme.

Authors:  Tien V Nguyen; Charles Riggs; Dusica Babovic-Vuksanovic; Yong-Sung Kim; John F Carpenter; Thomas P Burghardt; Niels Gregersen; Jerry Vockley
Journal:  Biochemistry       Date:  2002-09-17       Impact factor: 3.162

4.  Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency.

Authors:  Christina Bak Pedersen; Peter Bross; Vibeke Stenbroen Winter; Thomas Juhl Corydon; Lars Bolund; Kim Bartlett; Jerry Vockley; Niels Gregersen
Journal:  J Biol Chem       Date:  2003-09-23       Impact factor: 5.157

5.  Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.

Authors:  J Vockley; B Parimoo; K Tanaka
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

6.  Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.

Authors:  M J Corydon; J Vockley; P Rinaldo; W J Rhead; M Kjeldsen; V Winter; C Riggs; D Babovic-Vuksanovic; J Smeitink; J De Jong; H Levy; A C Sewell; C Roe; D Matern; M Dasouki; N Gregersen
Journal:  Pediatr Res       Date:  2001-01       Impact factor: 3.756

Review 7.  Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Authors:  Dietrich Matern; Miao He; Susan A Berry; Piero Rinaldo; Chester B Whitley; Pia P Madsen; Sandra C van Calcar; Richard C Lussky; Brage S Andresen; Jon A Wolff; Jerry Vockley
Journal:  Pediatrics       Date:  2003-07       Impact factor: 7.124

8.  Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability.

Authors:  Ibrahim Nasser; Al-Walid Mohsen; Ilian Jelesarov; Jerry Vockley; Peter Macheroux; Sandro Ghisla
Journal:  Biochim Biophys Acta       Date:  2004-09-06

9.  A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

Authors:  M He; S L Rutledge; D R Kelly; C A Palmer; G Murdoch; N Majumder; R D Nicholls; Z Pei; P A Watkins; J Vockley
Journal:  Am J Hum Genet       Date:  2007-06-04       Impact factor: 11.025

10.  Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

Authors:  Tien V Nguyen; Brage S Andresen; Thomas J Corydon; Sandro Ghisla; Nasser Abd-El Razik; Al-Walid A Mohsen; Stephen D Cederbaum; Diane S Roe; Charles R Roe; Nicolas J Lench; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2002 Sep-Oct       Impact factor: 4.797
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  1 in total

Review 1.  Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.

Authors:  Beth K Potter; Pranesh Chakraborty; Jonathan B Kronick; Kumanan Wilson; Doug Coyle; Annette Feigenbaum; Michael T Geraghty; Maria D Karaceper; Julian Little; Aizeddin Mhanni; John J Mitchell; Komudi Siriwardena; Brenda J Wilson; Ania Syrowatka
Journal:  Genet Med       Date:  2012-12-06       Impact factor: 8.822
  1 in total

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