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First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency |
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| Authors: | Sabrina Malvagia Amelia Morrone Elisabetta Pasquini Silvia Funghini Giancarlo la Marca Enrico Zammarchi Maria Alice Donati |
| Institution: | Metabolic and Muscular Unit, Department of Pediatrics, University of Florence, Meyer Children's Hospital, Florence, Italy |
| Abstract: | |
| Keywords: | holocarboxylase synthetase prenatal diagnosis molecular diagnosis |