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Titel:

[A 32-year old male patient with pathological humeral fracture, splenomegaly and thrombocytopenia]

Dokumenttyp:
Case Reports; Journal Article
Autor(en):
Dürr, EM; Geiss, HC; Pontz, BF; Parhofer, KG
Abstract:
We describe the case of a 32-year old male patient who presented with a pathological fracture of his right humerus, splenomegaly and thrombocytopenia, the typical symptoms of Gaucher's disease, a lysosomal storage disease. Diagnosis was confirmed by bone marrow biopsy (detection of lipid engorged macrophages - Gaucher cells), by a markedly diminished activity of acid, beta-Glucosidase and by showing two different mutations (764T/A, 1187G/A) in the gene encoding acid beta-Glucosidase. The first m...     »
Zeitschriftentitel:
Internist (Berl)
Jahr:
2004
Band / Volume:
45
Heft / Issue:
4
Seitenangaben Beitrag:
455-60
Sprache:
de
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/15151139
Print-ISSN:
0020-9554
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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