CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11years of therapy: Clinical, histopathologic, and biochemical findings

Molecular Genetics and Metabolism

Volumn 114, Issue 2, 2015, Pages 233-241

  Burrow, Thomas A ^a,b   Sun, Ying ^a,b   Prada, Carlos E ^a   Bailey, Laurie ^a   Zhang, Wujuan ^a,b   Brewer, Amanda ^a,b   Wu, Steve W ^a,b   Setchell, Kenneth D R ^a,b   Witte, David ^a,b,c   Cohen, Mitchell B ^a,b   Grabowski, Gregory A ^a,b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^c FUNDACIÓN CARDIOVASCULAR DE COLOMBIA   (Colombia)

Author keywords

Enzyme replacement therapy; Gaucher disease; Lymphadenopathy; Lysosomal storage disease; Pathology

Indexed keywords

ALBUMIN; ANTICONVULSIVE AGENT; BETA GLUCOSIDASE; ELECTROLYTE; GALACTOSYLCERAMIDE; GLUCOSYLCERAMIDE; GLUCOSYLSPHINGOSINE; GLYCOSPHINGOLIPID; IMIGLUCERASE; LONG CHAIN FATTY ACID; PSYCHOSINE; TAU PROTEIN; UBIQUITIN; UNCLASSIFIED DRUG; LIPID; SPHINGOSYL BETA-GLUCOSIDE;

ANEMIA; ANTICONVULSANT THERAPY; ARTICLE; ASCITES; ASTROCYTOSIS; ATAXIA; AUTOPHAGY; AUTOPSY; BLOATING; CASE REPORT; COMORBIDITY; CONTROLLED STUDY; DEATH; DEVELOPMENTAL DISORDER; DIARRHEA; DISEASE COURSE; DNA SEQUENCE; DYSPNEA; EDEMA; ELECTROLYTE DISTURBANCE; ENTEROPATHY; ENZYME ACTIVITY; ENZYME THERAPY; FRACTURE; GAUCHER DISEASE; GENE MUTATION; HEPATOSPLENOMEGALY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERREFLEXIA; HYPOALBUMINEMIA; INFANT; INTERSTITIAL LUNG DISEASE; LAPAROTOMY; LONGEVITY; LUNG PARENCHYMA; LYMPHADENOPATHY; MACROPHAGE; MALABSORPTION; MALE; MYOCLONUS; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; OXYGEN CONSUMPTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RESPIRATORY TRACT DISEASE; THROMBOCYTOPENIA; TONIC CLONIC SEIZURE; TOTAL PARENTERAL NUTRITION; TREATMENT DURATION; TREMOR; VOMITING; WHEEZING; ADOLESCENT; ANALOGS AND DERIVATIVES; BRAIN; CEREBROSPINAL FLUID; CHEMISTRY; ENZYME REPLACEMENT; FOLLOW UP; LIVER; LUNG; LYMPH NODE; PATHOLOGY; PATHOPHYSIOLOGY; SPLEEN;

ADOLESCENT; BRAIN; DISEASE PROGRESSION; ENZYME REPLACEMENT THERAPY; FOLLOW-UP STUDIES; GAUCHER DISEASE; GLUCOSYLCERAMIDES; GLYCOSPHINGOLIPIDS; HUMANS; LIPIDS; LIVER; LONGEVITY; LUNG; LYMPH NODES; MACROPHAGES; MALE; PHENOTYPE; PSYCHOSINE; SPLEEN;

EID: 84921695208     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.08.011     Document Type: Article

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