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Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants

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Description scientific article published on 26 August 2017
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author: Lorena Travaglini  Lorenzo D'Antiga  Scott Nightingale  Tiziano Lucchi 

Publication date August 26, 2017
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