Results 301 to 310 of about 1,855,857 (359)
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Current Opinion in Gastroenterology, 2000
This review focuses on two genetic disorders of metal metabolism, genetic hemochromatosis and Wilson disease, and on the most common lysosomal storage disorder, Gaucher disease, for which recombinant enzyme replacement therapy is available. The discovery of the genes for these disorders has led to an explosion of new information about the function of ...
M L, Schilsky, P, Mistry
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This review focuses on two genetic disorders of metal metabolism, genetic hemochromatosis and Wilson disease, and on the most common lysosomal storage disorder, Gaucher disease, for which recombinant enzyme replacement therapy is available. The discovery of the genes for these disorders has led to an explosion of new information about the function of ...
M L, Schilsky, P, Mistry
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Medical Journal of Australia, 1995
Metabolic bone diseases often present in old age and some are more easily treatable than others. Osteoporosis is best managed by prevention, with maximisation of peak bone density and reduction of subsequent bone loss. Although hormone replacement therapy is most useful in prevention, it also has a role in established osteoporosis.
V, Grill, T J, Martin
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Metabolic bone diseases often present in old age and some are more easily treatable than others. Osteoporosis is best managed by prevention, with maximisation of peak bone density and reduction of subsequent bone loss. Although hormone replacement therapy is most useful in prevention, it also has a role in established osteoporosis.
V, Grill, T J, Martin
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Primary Care: Clinics in Office Practice
Metabolic bone diseases encompass a group of disorders characterized by abnormalities in bone metabolism, structure, or mineralization. These disorders negatively impact overall health and quality of life and place individuals at high risk for fracture, which may increase morbidity and mortality.
LaRae L, Seemann +2 more
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Metabolic bone diseases encompass a group of disorders characterized by abnormalities in bone metabolism, structure, or mineralization. These disorders negatively impact overall health and quality of life and place individuals at high risk for fracture, which may increase morbidity and mortality.
LaRae L, Seemann +2 more
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Miscellaneous metabolic diseases
Current Opinion in Rheumatology, 1996Musculoskeletal manifestations are commonly observed in metabolic disorders. Here we review the recent literature on several metabolic arthropathies. Hemochromatosis should be suspected in patients with the sign of the "iron salute". Screening for this disorder by routine measurement of transferrin saturation appears to be a cost-effective procedure in
D, Van Linthoudt, A K, So
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Current Opinion in Gastroenterology, 1997
The elucidation of metabolic pathways and the genetic basis for diseases of the liver continues to increase our understanding of disease pathogenesis and advance treatment options. This selective review covers a wide range of subjects, from the identification of novel proteins and the importance of specific transport pathways to phenotypic expression ...
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The elucidation of metabolic pathways and the genetic basis for diseases of the liver continues to increase our understanding of disease pathogenesis and advance treatment options. This selective review covers a wide range of subjects, from the identification of novel proteins and the importance of specific transport pathways to phenotypic expression ...
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Current Opinion in Gastroenterology, 2001
The discovery of novel metabolic pathways and the genetic basis for diseases of the liver continues to yield new insights into the pathogenesis of inherited metabolic diseases of the liver, whereas the application of new technologies to their treatment continues to advance therapeutic options.
M L, Schilsky, P, Mistry
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The discovery of novel metabolic pathways and the genetic basis for diseases of the liver continues to yield new insights into the pathogenesis of inherited metabolic diseases of the liver, whereas the application of new technologies to their treatment continues to advance therapeutic options.
M L, Schilsky, P, Mistry
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Journal of Child Neurology, 2008
Autism is an etiologic heterogeneous entity caused by many different diseases occurring in the central nervous system at an early stage in life. Several metabolic defects have been associated with autistic symptoms with a rate higher than that found in the general population.
Manzi, B +3 more
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Autism is an etiologic heterogeneous entity caused by many different diseases occurring in the central nervous system at an early stage in life. Several metabolic defects have been associated with autistic symptoms with a rate higher than that found in the general population.
Manzi, B +3 more
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Cataract and metabolic disease
Journal of Inherited Metabolic Disease, 1990SummaryIn addition to the already recognized metabolic diseases which have been associated with cataract formation, e.g. galactosaemia, galactokinase deficiency, Lowe's syndrome and diabetes, several other disorders can also lead to the development of cataracts.
W, Endres, Y S, Shin
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JAMA: The Journal of the American Medical Association, 1979
ABSTRACT The second volume of Metabolic Bone Disease contains seven additional essays on bone and mineral metabolism. Despite the book's title, there is in many instances a scarcity of information on bone disease. Topics previously covered in the first volume do, however, make up for this deficit to some extent.The chapter on parathyroid physiology and
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ABSTRACT The second volume of Metabolic Bone Disease contains seven additional essays on bone and mineral metabolism. Despite the book's title, there is in many instances a scarcity of information on bone disease. Topics previously covered in the first volume do, however, make up for this deficit to some extent.The chapter on parathyroid physiology and
openaire +2 more sources