Gaucher's Disease at a National Referral Hospital [PDF]
Objectives: To determine the prevalence and to characterise Gaucher\'s disease in terms of socio-demographic data, clinical presentation, and management as seen at Kenyatta National Hospital. Design: A retrospective record based study.
Ireri, JM, Murila, F, Rajab, JA
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Ataxia in Childhood: Epidemiological, Clinical and Neuroradiologic Features, and the Risk of Recurrence [PDF]
How to Cite This Article: Javadzadeh M, Hassanvand Amouzadeh M, Sadat Esmail Nejad Sh, Abasi E, Alipour A, Mollamohammadi M. Ataxia in Childhood:Epidemiological, Clinical and Neuroradiologic Features, and the Risk of Recurrence.
ABASI, Ezatollah +5 more
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Economic Costs of Diabetes in the U.S. in 2002 [PDF]
After adjusting for differences in demographics between the two populations, the study finds that people with diabetes incur healthcare costs approximately 2.4 times higher than people without diabetes.
Paul Hogan, Plamen Nikolov, Tim Dall
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Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease [PDF]
Drug-induced phospholipidosis (DIPL) is characterized by an increase in the phospholipid content of the cell and the accumulation of drugs and lipids inside the lysosomes of affected tissues, including in the liver.
Baker, D +4 more
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Mucopolysaccharidoses, Mucolipidoses, Sphingolipidoses の生検による直腸粘膜の電子顕微鏡的研究 [PDF]
Electron microscopic studies were performed on the rectal mucosa from patients with mucopolysac-charidoses, mucolipidoses and sphingolipidoses. The following results were obtained.
堀野 清孝
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Characterisation of cellular defects in Niemann-Pick type C disease [PDF]
Väitöskirja, ohj, Elina ...
Blom, Titta S.
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The Basics of Behavior Genetics: A Study of Heredity [PDF]
The general issue of the significance of genetic contributions to individual differences may be approached in two ways, through population genetics and through physiological genetics.
Walker, William Edwin
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Gaucher\u27s Disease: Case Report with Stress on Eye Findings [PDF]
This interesting case report comes from an alumnus of Henry Ford Hospital - Dr. Carlos Petrozzi who was a medical resident here from July 1961 to 1964. The findings may be of interest to opththalmologists and others because of the rather specific changes
Carbone, Angel O., Petrozzi, Carlos F.
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The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]
Helena Poupětová +5 more
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