Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C

Archives of Disease in Childhood

Volumn 84, Issue 5, 2001, Pages 427-429

  Imrie, J ^a   Wraith, J E ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Foamy macrophages; Niemann Pick disease type C; NPC; Splenomegaly

Indexed keywords

ABDOMINAL PAIN; ARTICLE; CASE REPORT; CHILD; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; FEMALE; HUMAN; INFANT; MALE; NIEMANN PICK DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN FIBROBLAST; SPLENOMEGALY;

BIOPSY; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; NIEMANN-PICK DISEASES; SPLENOMEGALY;

EID: 0035022768     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.84.5.427     Document Type: Article

References (12)

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2. Early-lethal pulmonary form of Niemann - Pick type C disease belonging to a second, rare genetic complementation group
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6. Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice
7. Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation
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9. Niemann-Pick disease type C: Nodular splenomegaly
10. A neurovisceral storage disease with vertical supranuclear ophthalmplegia, and its relationship to Niemann-Pick disease. A report of nine patients
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12. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients