Results 211 to 220 of about 134,584 (262)
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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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Neurologic Clinics, 2002
The inherited movement disorders comprise a rapidly growing category of human disease. Advances in genetics have led to the identification of the gene mutation in Huntington's disease and three different gene mutations, which may lead to Parkinson's disease.
Nutan, Sharma, David G, Standaert
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The inherited movement disorders comprise a rapidly growing category of human disease. Advances in genetics have led to the identification of the gene mutation in Huntington's disease and three different gene mutations, which may lead to Parkinson's disease.
Nutan, Sharma, David G, Standaert
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Inherited disorders of desmosomes
Australasian Journal of Dermatology, 2005SUMMARYDesmosomes are highly organized intercellular junctions that provide mechanical integrity to tissues by anchoring intermediate filaments to sites of strong adhesion. These cell–cell adhesion junctions are found in skin, heart, lymph nodes and meninges.
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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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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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Inheritance of mitochondrial disorders
Mitochondrion, 2002Over the last decade there have been major advances in our understanding of the genetic basis of mitochondrial disease, enabling genetic counseling for patients with autosomal dominant and autosomal recessive disorders. Genetic counseling for patients with mitochondrial DNA (mtDNA) mutations is less well established.
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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 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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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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Epilepsy in Inherited Metabolic Disorders
The Neurologist, 2008The study of neurometabolic diseases is still in a prolonged preliminary stage. The catalogue of these diseases continues to grow; some known clinical syndromes have been subdivided into a number of variants once the genes that cause them have been identified, and at the same time new metabolic disorders have been discovered that aggravate or ...
Pascual JM, Campistol J, Gil-Nagel A
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