Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.

Simon A JonesVassili ValayannopoulosEugene SchneiderStephen EckertMaryam BanikazemiMartin BialerStephen CederbaumAlicia ChanAnil DhawanMaja Di RoccoJennifer DommGregory M EnnsDavid N FinegoldJ Jay GargusOrnella GuardamagnaChristian HendrikszIman G MahmoudJulian RaimanLaila A SelimChester B WhitleyOsama ZakiAnthony G Quinn

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

These data confirm and expand earlier insights on the progression and course of LALD presenting in infancy. Despite variations in the nature, onset, and severity of clinical manifestations, and treatment attempts, clinical outcome was poor.Genet Med 18 5, 452-458.

Keyphrases

case report
cardiovascular events
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replacement therapy
risk factors
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type diabetes
coronary artery disease
sensitive detection