Gaucher's disease (with elevated serum acid phosphatase level) masquerading as cirrhosis of the liver

A case of marked pancytopenia, splenomegaly and persistently elevated serum acid phosphatase levels is described in which the diagnosis of Gaucher's disease was confirmed postmortem. A serum acid phosphatase value found to be elevated when phenylphosphate is used as substrate, and not inhibited...

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Veröffentlicht in:	The American journal of medicine 1964-07, Vol.37 (1), p.156-158
Hauptverfasser:	Tyson, Mary C., Grossman, William I., Tuchman, Lester R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acid Phosphatase - blood Anemia Anemia, Aplastic Blood Cell Count Blood Platelets Bone Marrow Examination Clinical Enzyme Tests Diagnosis, Differential Gaucher Disease Geriatrics Humans Liver Cirrhosis Old Medline Pathology Phosphates Splenomegaly
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Beschreibung
Zusammenfassung:	A case of marked pancytopenia, splenomegaly and persistently elevated serum acid phosphatase levels is described in which the diagnosis of Gaucher's disease was confirmed postmortem. A serum acid phosphatase value found to be elevated when phenylphosphate is used as substrate, and not inhibited by formaldehyde or by l-tartrate, should raise suspicion of the presence of Gaucher's disease.
ISSN:	0002-9343 1555-7162
DOI:	10.1016/0002-9343(64)90220-7