Abstract | AIM: METHODS: We carried out a multicentre retrospective study on 88 infants, born to women with HELLP syndrome. Acylcarnitine profiles from blood dried on filter paper cards were analysed by tandem mass spectrometry for the diagnosis of fatty acid beta-oxidation defects. In addition, we screened for the common long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency mutation using a standard restriction fragment length polymorphism polymerase chain reaction method. RESULTS: CONCLUSIONS:
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Authors | M Holub, O A Bodamer, C Item, A Mühl, A Pollak, S Stöckler-Ipsiroglu |
Journal | Acta paediatrica (Oslo, Norway : 1992)
(Acta Paediatr)
Vol. 94
Issue 1
Pg. 48-52
(Jan 2005)
ISSN: 0803-5253 [Print] Norway |
PMID | 15858960
(Publication Type: Journal Article, Multicenter Study)
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Chemical References |
- acylcarnitine
- 3-Hydroxyacyl CoA Dehydrogenases
- Carnitine
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Topics |
- 3-Hydroxyacyl CoA Dehydrogenases
(deficiency, genetics)
- Adult
- Carnitine
(analogs & derivatives, blood)
- Case-Control Studies
- DNA Mutational Analysis
- Female
- HELLP Syndrome
(etiology)
- Humans
- Infant, Newborn
- Male
- Metabolism, Inborn Errors
(complications, diagnosis)
- Pregnancy
- Retrospective Studies
- Risk Factors
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