Familial Sea-Blue Histiocytes With Acid Phosphatemia: A Syndrome Resembling Gaucher Disease: The Lewis Variant

JAMA: The Journal of the American Medical Association

Volumn 225, Issue 1, 1973, Pages 54-56

  Blankenship, Robert M ^a   Greenburg, Bernard R ^a   Lucas, Richard N ^a   Reynolds, Ralph D ^a   Beutler, Ernest ^b  

^a DAVID GRANT MEDICAL CENTER   (United States)

^b CITY OF HOPE NATIONAL MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACID PHOSPHATASE;

ADOLESCENT; ADULT; ARTICLE; BLOOD; BONE MARROW; BONE MARROW CELL; CELL INCLUSION; CHILD; ENZYMOLOGY; FEMALE; GAUCHER DISEASE; GENETICS; HISTIOCYTE; HUMAN; LACTOSE INTOLERANCE; MALE; PEDIGREE; PERIPHERAL NEUROPATHY; PIGMENT DISORDER; SPLENOMEGALY; STAINING; SYNDROME;

ACID PHOSPHATASE; ADOLESCENT; ADULT; BONE MARROW; BONE MARROW CELLS; CHILD; FEMALE; GAUCHER DISEASE; HISTIOCYTES; HUMAN; INCLUSION BODIES; LACTOSE INTOLERANCE; MALE; PEDIGREE; PERIPHERAL NERVOUS SYSTEM DISEASES; PIGMENTATION DISORDERS; SPLENOMEGALY; STAINING AND LABELING; SYNDROME;

EID: 0015912508     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.1973.03220280042013     Document Type: Article

References (8)

1. Beutler E, et al: Detection of Gaucher's disease and its carrier state from fibroblast cultures. Lancet 2:369, 1970.
2. Beutler E, et al: β-Glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. Am J Hum Genet 23:62-66, 1971.
3. Rywlin AM, et al: Ceroid histiocytosis of spleen and bone marrow in idiopathic thrombocytopenic purpura (ITP): A contribution to the understanding of the sea-blue histiocyte. Blood 37:587-593, 1971.
4. Rywlin AM, et al: Ceroid histiocytosis of the spleen in hyperlipemia. Am J Clin Pathol 56:572-579, 1971.
5. Winkler HH, et al: Ceroid storage disease complicated by rupture of the spleen. Am J Med 46:297-301, 1969.
6. Kattlove HE, et al: Sea-blue indigestion. N Engl J Med 282:630-631, 1970.
7. Tyson MC, Grossman WI, Tuchman LR: Gaucher's disease (with elevated serum acid phosphatase level) masquerading as cirrhosis of the liver. Am J Med 37:156-158, 1964.
8. Woodard HQ: The clinical significance of serum acid phosphatase. Am J Med 27:902-910, 1959.