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storage disease
Known as:
diseases storage
, thesaurosis
National Institutes of Health
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Neurovisceral Storage Disease with Curvilinear Bodies
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2004
Review
2004
Myoclonus: current concepts and recent advances
J. Caviness
,
P. Brown
Lancet Neurology
2004
Corpus ID: 25667398
Highly Cited
1990
Highly Cited
1990
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
A. Zimran
,
Joseph A. Sorge
,
E. Gross
,
M. Kubitz
,
C. West
,
Ernest Beutler
Journal of Clinical Investigation
1990
Corpus ID: 880267
The molecular diagnosis of Gaucher disease has been difficult due to the existence of several different point mutations in the…
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Highly Cited
1987
Highly Cited
1987
Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky‐Pudlak syndrome
C. Witkop
,
Marcy Krumwiede
,
H. Sedano
,
J. White
American journal of hematology/oncology
1987
Corpus ID: 23385084
The clinical, pigmentary, and ceroid storage manifestations of the Hermansky‐Pudlak syndrome (HPS) triad of albinism, hemorrhagic…
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Review
1983
Review
1983
Lysosomal enzymes in ocular tissues and diseases.
S. Hayasaka
Survey of ophthalmology
1983
Corpus ID: 21588318
Highly Cited
1981
Highly Cited
1981
Amiodarone keratopathy: drug-induced lipid storage disease.
D. D’Amico
,
K. Kenyon
,
J. Ruskin
A M A Archives of Ophthalmology
1981
Corpus ID: 20250306
Therapeutic administration of amiodarone, an antiarrhythmic drug, to eight patients resulted in the formation of vortex-like…
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Review
1972
Review
1972
Pulmonary infiltration due to aerosol thesaurosis. A survey of hairdressers.
J. Gowdy
,
M. Wagstaff
Archives of Environmental Health An International…
1972
Corpus ID: 32719002
The existence of pulmonary infiltration caused by deposition of hair spray lacquer (thesaurosis) has been disputed. Five cases…
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1971
1971
Fabry's Disease: Ocular Findings in a Female Carrier: A Light and Electron Microscopic Study
T. Weingeist
,
F. Blodi
1971
Corpus ID: 72131883
FABRY'S DISEASE (angiokeratoma corporis diffusum) is a specific type of sphingolipid thesaurosis in which a neutral trihexoside…
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Highly Cited
1969
Highly Cited
1969
Mannosidosis: Isolation of oligosaccharide storage material from brain
P. Öckerman
1969
Corpus ID: 71410936
1963
1963
Pulmonary disease and hair-spray polymers: a disputed relationship.
M. Brunner
,
R. Giovacchini
,
J. Wyatt
,
F. Dunlap
,
J. Calandra
Journal of the American Medical Association (JAMA…
1963
Corpus ID: 6025694
Massive exposure of experimental animals to a vinylalkylether/maleic ester copolymer hair spray by inhalation did not produce…
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1958
1958
Thesaurosis following inhalation of hair spray; a clinical and experimental study.
M. Bergmann
,
I. J. Flance
,
H. Blumenthal
New England Journal of Medicine
1958
Corpus ID: 13296920
HAIR spray is currently one of the most widely used cosmetic preparations. Although the exact compositions of various brands of…
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