Literature DB >> 12942893

Expanded newborn screening.

Marsha K Fearing1, Deborah Marsden.   

Abstract

The advent of expanded newborn screening has resulted in huge advances in the ability to detect presymptomatic infants with a large number of inborn errors of metabolism. Widespread implementation of this type of screening will ultimately lead to reduced mortality and morbidity from these diseases and also will increase our knowledge of the frequency and phenotypic variability for each of them.

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Year:  2003        PMID: 12942893     DOI: 10.3928/0090-4481-20030801-08

Source DB:  PubMed          Journal:  Pediatr Ann        ISSN: 0090-4481            Impact factor:   1.132


  2 in total

Review 1.  Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.

Authors:  Nuria Carrillo-Carrasco; Charles P Venditti
Journal:  J Inherit Metab Dis       Date:  2011-07-12       Impact factor: 4.982

2.  Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.

Authors:  S E Waisbren; H L Levy; M Noble; D Matern; N Gregersen; K Pasley; D Marsden
Journal:  Mol Genet Metab       Date:  2008-08-03       Impact factor: 4.797

  2 in total

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