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Results: 1 to 20 of 147

1.

Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening.

Yamamoto T, Tanaka H, Kobayashi H, Okamura K, Tanaka T, Emoto Y, Sugimoto K, Nakatome M, Sakai N, Kuroki H, Yamaguchi S, Matoba R.

Mol Genet Metab. 2011 Apr;102(4):399-406. doi: 10.1016/j.ymgme.2010.12.004. Epub 2010 Dec 14.

PMID:
21227726
[PubMed - indexed for MEDLINE]
2.

Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: diagnosis of mitochondrial respiratory chain disorders.

Yamamoto T, Emoto Y, Murayama K, Tanaka H, Kuriu Y, Ohtake A, Matoba R.

Mol Genet Metab. 2012 Aug;106(4):474-7. doi: 10.1016/j.ymgme.2012.05.002. Epub 2012 May 11.

PMID:
22658691
[PubMed - indexed for MEDLINE]
3.

Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.

Boles RG, Buck EA, Blitzer MG, Platt MS, Cowan TM, Martin SK, Yoon H, Madsen JA, Reyes-Mugica M, Rinaldo P.

J Pediatr. 1998 Jun;132(6):924-33.

PMID:
9627580
[PubMed - indexed for MEDLINE]
4.

Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.

Bonnet D, Martin D, Pascale De Lonlay, Villain E, Jouvet P, Rabier D, Brivet M, Saudubray JM.

Circulation. 1999 Nov 30;100(22):2248-53.

PMID:
10577999
[PubMed - indexed for MEDLINE]
Free Article
5.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
[PubMed - indexed for MEDLINE]
6.

Post-mortem MRI reveals CPT2 deficiency after sudden infant death.

Bouchireb K, Teychene AM, Rigal O, de Lonlay P, Valayannopoulos V, Gaudelus J, Sellier N, Bonnefont JP, Brivet M, de Pontual L.

Eur J Pediatr. 2010 Dec;169(12):1561-3. doi: 10.1007/s00431-010-1261-0. Epub 2010 Jul 27.

PMID:
20661589
[PubMed - indexed for MEDLINE]
7.

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

Wilcox RL, Nelson CC, Stenzel P, Steiner RD.

J Pediatr. 2002 Dec;141(6):833-6.

PMID:
12461502
[PubMed - indexed for MEDLINE]
8.

Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.

Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW.

Clin Chem. 2001;47(7):1166-82. Erratum in: Clin Chem 2001 Sep;47(9):1748.

PMID:
11427446
[PubMed - indexed for MEDLINE]
Free Article
9.

Tandem mass spectrometry findings at autopsy for detection of metabolic disease in infant deaths: postmortem changes and confounding factors.

Pryce JW, Weber MA, Heales S, Malone M, Sebire NJ.

J Clin Pathol. 2011 Nov;64(11):1005-9. doi: 10.1136/jclinpath-2011-200218. Epub 2011 Sep 6.

PMID:
21896576
[PubMed - indexed for MEDLINE]
10.

A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.

Manoukian AA, Ha CE, Seaver LH, Bhagavan NV.

Am J Forensic Med Pathol. 2009 Sep;30(3):284-6. doi: 10.1097/PAF.0b013e318187e09b.

PMID:
19696588
[PubMed - indexed for MEDLINE]
11.

Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

Yahyaoui R, Espinosa MG, Gómez C, Dayaldasani A, Rueda I, Roldán A, Ugarte M, Lastra G, Pérez V.

Mol Genet Metab. 2011 Nov;104(3):414-6. doi: 10.1016/j.ymgme.2011.05.003. Epub 2011 May 12.

PMID:
21641254
[PubMed - indexed for MEDLINE]
12.

Post-mortem analysis for two prevalent beta-oxidation mutations in sudden infant death.

Yang Z, Lantz PE, Ibdah JA.

Pediatr Int. 2007 Dec;49(6):883-7.

PMID:
18045290
[PubMed - indexed for MEDLINE]
13.
14.

Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening.

Siu WK, Mak CM, Siu SL, Siu TS, Pang CY, Lam CW, Kwong NS, Chan AY.

Diagn Mol Pathol. 2012 Sep;21(3):184-7. doi: 10.1097/PDM.0b013e31825554d0.

PMID:
22847164
[PubMed - indexed for MEDLINE]
15.

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

Chalmers RA, Stanley CA, English N, Wigglesworth JS.

J Pediatr. 1997 Aug;131(2):220-5.

PMID:
9290607
[PubMed - indexed for MEDLINE]
16.

Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver.

Boles RG, Martin SK, Blitzer MG, Rinaldo P.

Hum Pathol. 1994 Aug;25(8):735-41.

PMID:
8056418
[PubMed - indexed for MEDLINE]
17.

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.

Matern D, Strauss AW, Hillman SL, Mayatepek E, Millington DS, Trefz FK.

Pediatr Res. 1999 Jul;46(1):45-9.

PMID:
10400133
[PubMed - indexed for MEDLINE]
18.

Postmortem tandem mass spectrometry profiling for detection of infection in unexpected infant death.

Pryce JW, Weber MA, Heales S, Krywawych S, Ashworth MT, Klein NJ, Sebire NJ.

Forensic Sci Med Pathol. 2012 Sep;8(3):252-8. doi: 10.1007/s12024-011-9308-8. Epub 2012 Jan 14.

PMID:
22246957
[PubMed - indexed for MEDLINE]
19.

Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.

Browning MF, Larson C, Strauss A, Marsden DL.

J Inherit Metab Dis. 2005;28(4):545-50.

PMID:
15902557
[PubMed - indexed for MEDLINE]
20.

Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.

Semba S, Yasujima H, Takano T, Yokozaki H.

Pathol Int. 2008 Jul;58(7):436-41. doi: 10.1111/j.1440-1827.2008.02250.x.

PMID:
18577113
[PubMed - indexed for MEDLINE]

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