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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L. D’Antiga | P. Crock | S. Bertolini | M. Di Rocco | S. Calandra | L. Pisciotta | H. Michelakakis | R. Taurisano | G. Indolfi | T. Lucchi | A. Garoufi | F. Papadia | L. Travaglini | G. Tozzi | S. Nightingale | Komal A Vora | L. Lykopoulou