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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發表在:J Pediatr Gastroenterol Nutr
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Lippincott Williams & Wilkins 2015
主題:
Original Articles: Gastroenterology
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4645959/
https://ncbi.nlm.nih.gov/pubmed/26252914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0000000000000935
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