Abnormal nonstoring capillary endothelium: A novel feature of Gaucher disease. Ultrastructural study of dermal capillaries

Journal of Inherited Metabolic Disease

Volumn 33, Issue 1, 2010, Pages 69-78

  Hůlková, Helena ^a   Poupětová, Helena ^a   Harzer, Klaus ^b   Mistry, Pramod ^c   Aerts, Johannes M F G ^d   Elleder, Milan ^a  

^a General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASEMENT MEMBRANE; CAPILLARY ENDOTHELIUM; CASE REPORT; CHILD; CLINICAL FEATURE; CYTOPLASM; ENDOTHELIUM CELL; GAUCHER DISEASE; GENE MUTATION; GENETIC ANALYSIS; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LYSOSOME; MALE; PANCYTOPENIA; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SACCADIC EYE MOVEMENT; SKIN BIOPSY; SKIN FIBROBLAST; STRABISMUS; ULTRASTRUCTURE;

EID: 77649239349     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-009-9018-5     Document Type: Article

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