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

التفاصيل البيبلوغرافية
العنوان:	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
المؤلفون:	Pisciotta, Livia, Tozzi, Giulia, Travaglini, Lorena, Taurisano, Roberta, Lucchi, Tiziano, Indolfi, Giuseppe, Papadia, Francesco, Di Rocco, Maja, D'Antiga, Lorenzo, Crock, Patricia, Vora, Komal, Nightingale, Scott, Michelakakis, Helen, Garoufi, Anastasia, Lykopoulou, Lilia, Bertolini, Stefano, Calandra, Sebastiano
المصدر:	In Atherosclerosis October 2017 265:124-132
قاعدة البيانات:	ScienceDirect

الوصف
تدمد:	00219150
DOI:	10.1016/j.atherosclerosis.2017.08.021