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

Genetics in Medicine

Volumn 18, Issue 5, 2016, Pages 452-458

  Jones, Simon A ^a   Valayannopoulos, Vassili ^b   Schneider, Eugene ^c   Eckert, Stephen ^c   Banikazemi, Maryam ^d   Bialer, Martin ^e   Cederbaum, Stephen ^f   Chan, Alicia ^g   Dhawan, Anil ^h   Di Rocco, Maja ⁱ   Domm, Jennifer ^j   Enns, Gregory M ^k   Finegold, David ^l   Jay Gargus, J ^m   Guardamagna, Ornella ⁿ   Hendriksz, Christian ^o   Mahmoud, Iman G ^p   Raiman, Julian ^q   Selim, Laila A ^p   Whitley, Chester B ^r   Zaki, Osama ^s   Quinn, Anthony G ^c   more..

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c Synageva BioPharma Corp   (United States)

^d NEW YORK PRESBYTERIAN HOSPITAL   (United States)

^e North Shore LIJ Health System   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g UNIVERSITY OF ALBERTA   (Canada)

^h KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

ⁱ G GASLINI INSTITUTE   (Italy)

^j MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^k STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^m UNIVERSITY OF CALIFORNIA   (United States)

ⁿ UNIVERSITY OF TURIN   (Italy)

^o BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^p Cairo University   (Egypt)

^q HOSPITAL FOR SICK CHILDREN   (Canada)

^r UNIVERSITY OF MINNESOTA   (United States)

^s Saint Fatima Square Heliopolis   (Egypt)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; SERUM ALBUMIN; STEROID; CHOLESTEROL ESTERASE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CLINICAL ARTICLE; DIARRHEA; DISEASE COURSE; ENZYME ACTIVITY; FEMALE; FIBROSIS; GENE MUTATION; GROWTH DISORDER; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; INFANT; INFANT DISEASE; INFANT MORTALITY; LIVER BIOPSY; LIVER GRAFT; MALE; MULTICENTER STUDY; PARTIAL THROMBOPLASTIN TIME; SPLENOMEGALY; STEATORRHEA; STEATOSIS; STEROID THERAPY; STOP CODON; UNDERWEIGHT; UNITED STATES; VOMITING; WOLMAN DISEASE; GENETICS; KAPLAN MEIER METHOD; MORTALITY; NEWBORN; PATHOLOGY; TREATMENT OUTCOME;

DISEASE PROGRESSION; FEMALE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMANS; INFANT; INFANT, NEWBORN; KAPLAN-MEIER ESTIMATE; MALE; STEROL ESTERASE; TREATMENT OUTCOME; WOLMAN DISEASE;

EID: 84964914026     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.108     Document Type: Article

References (20)

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