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Prenatal diagnosis of disorders of energy metabolism
ROBINSON BH
SEMIN NEUROL , 2001, vol. 21, n° 3, p. 269-273 Doc n°: 102884 Localisation : Documentation IRR Descripteurs : AA - GENERALITES - SYSTEME NEUROMUSCULAIRE Prenatal diagnosis for disorders of energy metabolism is problematic because of the lack of information about the efficacy of the procedures currently employed. Difficulties arise due to uncertainty as to the nuclear or mitochondrial DNA origin of respiratory chain abnormalities, and also as to the tissue specificity of defective gene expression. Here, we look at the current experience with prenatal diagnosis of these disorders and examine possible future directions. Langue : ANGLAIS Tiré à part : OUI Identifiant basis : 2001219352 |
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