Literature DB >> 12461502

Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.

Rebecca L Wilcox1, Cliff C Nelson, Peter Stenzel, Robert D Steiner.   

Abstract

A protocol was developed for the detection of fatty acid oxidation disorders (FOD) in cases of sudden unexpected death in infancy (SUDI). Tandem mass spectrometry blood acylcarnitine analysis of Guthrie card blood spots was performed. In the first 5 years, 1.2% of Oregon's 247 SUDI cases were identified with FOD, 2 with medium-chain acyl-CoA dehydrogenase deficiency, and one with very long-chain acyl-CoA dehydrogenase deficiency.

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Year:  2002        PMID： 12461502     DOI： 10.1067/mpd.2002.130259

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  7 in total

1.  A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.

Authors:  Didem Aliefendioğlu; Ali Dursun; Turgay Coşkun; Zuhal Akçören; Ronald J A Wanders; Hans R Waterham
Journal:  Eur J Pediatr       Date:  2007-01-06       Impact factor: 3.183

2.  The stillbirth collaborative research network postmortem examination protocol.

Authors:  Halit Pinar; Matthew A Koch; Hal Hawkins; Josefine Heim-Hall; Carlos R Abramowsky; Vanessa R Thorsten; Marshall W Carpenter; Hong Holly Zhou; Uma M Reddy
Journal:  Am J Perinatol       Date:  2011-08-03       Impact factor: 1.862

Review 3.  Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management.

Authors:  Prem S Shekhawat; Dietrich Matern; Arnold W Strauss
Journal:  Pediatr Res       Date:  2005-04-06       Impact factor: 3.756

Review 4.  Dried matrix spots: an evolving trend in the toxicological field.

Authors:  Ana Laura Bemvenuti Jacques; Maíra Kerpel Santos; Roberta Petry Gorziza; Renata Pereira Limberger
Journal:  Forensic Sci Med Pathol       Date:  2022-02-16       Impact factor: 2.007

Review 5.  Mitochondrial trifunctional protein defects: clinical implications and therapeutic approaches.

Authors:  R Scott Rector; R Mark Payne; Jamal A Ibdah
Journal:  Adv Drug Deliv Rev       Date:  2008-07-04       Impact factor: 15.470

6.  Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

Authors:  Takuma Yamamoto; Hiroyuki Mishima; Hajime Mizukami; Yuki Fukahori; Takahiro Umehara; Takehiko Murase; Masamune Kobayashi; Shinjiro Mori; Tomonori Nagai; Tatsushige Fukunaga; Seiji Yamaguchi; Koh-Ichiro Yoshiura; Kazuya Ikematsu
Journal:  Mol Genet Metab Rep       Date:  2015-10-02

7.  Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002-2014).

Authors:  F H de Bitencourt; I V D Schwartz; F S L Vianna
Journal:  BMC Pediatr       Date:  2019-02-08       Impact factor: 2.125
  7 in total

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