Antenatal manifestations of mitochondrial respiratory chain deficiency
Authors:
- Valérie Cormier-DaireVCValérie Cormier-Daire
- Géraldine ViotGVGéraldine Viot
- Alice GoldenbergAGAlice Goldenberg
- Becky MardachBMBecky Mardach
- Jeanne AmielJAJeanne Amiel
- Philippe SaadaPSPhilippe Saada
- Yves DumezYDYves Dumez
- Francis BrunelleFBFrancis Brunelle
- Jean-Marie SaudubrayJSJean-Marie Saudubray
- Dominique ChrétienDCDominique Chrétien
- Agnès RötigARAgnès Rötig
- 1 August 2003
- journal article
- research article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 143 (2) , 208-212
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Refsum Disease, Peroxisomes and Phytanic Acid Oxidation: A ReviewJournal of Neuropathology & Experimental Neurology, 2001
- Inherited Disorders of Cholesterol BiosynthesisNeuropediatrics, 2001
- Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron depositsNature Genetics, 2001
- Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiencyPrenatal Diagnosis, 2000
- The Smith-Lemli-Opitz syndromeJournal of Medical Genetics, 2000
- RSH (so-called Smith-Lemli-Opitz) syndromeCurrent Opinion in Pediatrics, 1999
- Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in miceNature Genetics, 1998
- Mitochondrial biogenesis in early mouse embryos: Expression of the mRNAs for subunits IV, Vb, and VIIc of cytochrome c oxidase and subunit 9 (P1) of H+‐ATP synthaseMolecular Reproduction and Development, 1995
- Biochemical and molecular investigations in respiratory chain deficienciesClinica Chimica Acta, 1994
- Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblastsEuropean Journal of Pediatrics, 1993