Inherited Metabolic Disorders and Stroke Part 1
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چکیده
منابع مشابه
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.
Several inherited metabolic disorders have been associated with stroke particularly in newborns, children, and young adults. In part 1, we discussed the genetics, stroke pathophysiology, clinical presentation, diagnosis, and treatment of Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. In part 2, we overview homocystinuria, organic acidurias, a...
متن کاملInherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
Inherited metabolic disorders are single-gene genetic diseases associated with multiorgan damage. Some of these conditions increase the risk of stroke through a variety of mechanisms, and there is evidence that early recognition and initiation of appropriate treatment may improve prognosis. In this 2-part review we provide an update of the genetics, stroke pathophysiology, clinical manifestatio...
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Scientists fi rst described inborn errors of metabolism, also termed inherited disorders of metabolism, early in the 20th century and since then have determined the biochemical and genetic bases of a great number of these disorders both in humans and in an increasing number of companion animals. The availability of metabolic screening tests has advanced the biochemical and genetic characterizat...
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diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...
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From the 'Channg Cross and Westminster Medical School London UK IRCCS Maggiore Hospital, Milan Italy Beth Israel Hospital, Boston USA, "University Hospital Leiden The Netherlands Research Centre of Medical Genetics Moscow The Russian Federation, WHO, Switzerland, Chnstian Medical College Hospital Vellore India University of Lund, Malmo Sweden 'Institute of Clinical Genetics Moscow The Russian F...
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ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2010
ISSN: 0003-9942
DOI: 10.1001/archneurol.2009.309