Results 261 to 270 of about 309,203 (310)
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Hospital Practice, 1982
Genetic defects in tubule function, although relatively rare, have served as models for the study of the more common acquired renal tubular disorders. Defects in reabsorption or secretion or in hormone production or action are primarily involved. An exact physiologic mechanism has been delineated for some of them, leading to effective management of the
R A, DeFronzo, S O, Thier
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Genetic defects in tubule function, although relatively rare, have served as models for the study of the more common acquired renal tubular disorders. Defects in reabsorption or secretion or in hormone production or action are primarily involved. An exact physiologic mechanism has been delineated for some of them, leading to effective management of the
R A, DeFronzo, S O, Thier
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Inherited disorders of complement
Journal of the American Academy of Dermatology, 1983Isolated complement component deficiencies are uncommon. Deficiencies of all eleven components and two inhibitors of the classical pathway have been described. Complete absence of the components of the alternative pathway has not been described. The consequences of a single defect in complement are often predictable from an understanding of the ...
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Inherited desmosomal disorders
Cell and Tissue Research, 2014Desmosomes serve as intercellular junctions in various tissues including the skin and the heart where they play a crucial role in cell-cell adhesion, signalling and differentiation. The desmosomes connect the cell surface to the keratin cytoskeleton and are composed of a transmembranal part consisting mainly of desmosomal cadherins, armadillo proteins ...
Liat, Samuelov, Eli, Sprecher
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Inherited disorders of glycosylation
Molecular Genetics and Metabolism, 2006Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread functions of glycosylation, inherited disorders of glycosylation are multisystemic.
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Inherited Coagulation Disorders
Veterinary Clinics of North America: Small Animal Practice, 1988Inherited coagulation disorders have been diagnosed in many breeds of dogs as well as in mongrels and cats. This article presents the different coagulation factor deficiencies that are known to exist in small animals. A description is given of each coagulation factor along with the relevant clinical signs, inheritance, and the breeds affected ...
J M, Fogh, I T, Fogh
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Acta Psychiatrica Scandinavica, 1989
A compilation of all mental disorders with known genetic etiology is presented. Of 139 disorders the gene location is known in 36. Eleven of the genes are located on the X chromosome and 24 on the autosomes. When a gene for a disorder is located, linkage analysis can be used for diagnosis.
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A compilation of all mental disorders with known genetic etiology is presented. Of 139 disorders the gene location is known in 36. Eleven of the genes are located on the X chromosome and 24 on the autosomes. When a gene for a disorder is located, linkage analysis can be used for diagnosis.
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Current Opinion in Hematology, 2003
Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used ...
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Inherited platelet disorders are important causes of bleeding that can quantitatively and qualitatively alter platelets, impairing their function. The purpose of this review is to summarize current knowledge on the different types of inherited platelet disorders, their clinical and laboratory features, molecular genetic causes, and the therapies used ...
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Inherited Mitochondrial Disorders
2011Though inherited mitochondrial disorders (MIDs) are most well known for their syndromic forms, for which widely known acronyms (MELAS, MERRF, NARP, LHON etc.) have been coined, the vast majority of inherited MIDs presents in a non-syndromic form. Since MIDs are most frequently multisystem disorders already at onset or during the disease course, a MID ...
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Hematology, 2005
Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology.
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Abstract The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology.
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Inherited Disorders of Coagulation in Pregnancy
Clinical Obstetrics and Gynecology, 1995Normal physiology has been reviewed to serve as a basis for understanding the abnormalities leading to the inherited coagulation disorders. These abnormalities involve each of the three arms of the coagulation process: platelets, the coagulation cascade, and the clot prevention/lysis pathways.
F B, Rigby, T E, Nolan
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