Clinical Features of Lysosomal Acid Lipase Deficiency

OBJECTIVE: The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. METHODS: Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and ima...

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Detalles Bibliográficos
Autores principales: Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut-Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2015
Materias:
Original Articles: Gastroenterology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4645959/
https://www.ncbi.nlm.nih.gov/pubmed/26252914
http://dx.doi.org/10.1097/MPG.0000000000000935

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