Open AccessRapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Author(s) -
Simon Jones,
Vassili Valayannopoulos,
Eugene Schneider,
Stephen Eckert,
Maryam Banikazemi,
Martin G. Bialer,
Stephen Cederbaum,
Alicia Chan,
Anil Dhawan,
Maja Di Rocco,
Jennifer Domm,
Gregory M. Enns,
David N. Finegold,
J. Jay Gargus,
Ornella Guardamagna,
Christian J. Hendriksz,
Iman G. Mahmoud,
Julian Raiman,
Laila Selim,
Chester B. Whitley,
Osama K. Zaki,
Anthony G. Quinn
Publication year - 2015
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2015.108
Subject(s) - medicine , pediatrics , population , diarrhea , hematopoietic stem cell transplantation , medical record , cause of death , vomiting , transplantation , disease , environmental health
The purpose of this study was to enhance understanding of lysosomal acid lipase deficiency (LALD) in infancy.
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