Expert Rev Neurother 2008 Nov;8(11):1731-41
Department of Neurology, University of South Florida College of Medicine, Tampa, FL 33606, USA.
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Arch Neurol 2010 Feb;67(2):148-53
Department of Neurology and Rehabilitation, Section of Cerebrovascular Disease and Neurological Critical Care, University of Illinois College of Medicine at Chicago, 912 S Wood Street, Chicago, IL 60612, USA.
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, and urea cycle disorders. Read More
Semin Neurol 2006 Feb;26(1):33-48
Department of Neurology, University of Utah, Salt Lake City, 84132, USA.
Monogenic causes of stroke are rare but should not be missed by the neurologist. The purpose of this review is to aid the reader in the evaluation of a patient with cryptogenic stroke with or without a family history suspicious for an inherited condition. The clinical findings, diagnosis, and management of monogenic causes of stroke and stroke look-alikes are discussed, including cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, Fabry's disease, vascular Ehlers-Danlos, Marfan syndrome, sickle cell disease, the thrombophilias, hereditary hemorrhagic telangiectasia, cerebral cavernous malformations, hereditary cerebral hemorrhage with amyloidosis, and mitochondrial encephalopathy, lactic acidosis, and strokelike episodes. Read More
Nihon Rinsho 1993 Nov;51(11):2919-23
Department of Pediatrics, Faculty of Medicine, University of Tokyo.
A variety of inheritable metabolic disorders produce movement disorders. A lists of conditions associated with tremor, athetosis, chorea, dystonia and myoclonus are presented as a guide for the differential diagnosis of such abnormal involuntary movements. The list includes aminoacidopathies, lipidoses, mucopolysaccharidoses, mucolipidoses, organic acidemias, mitochondrial cytopathies and disorders of carbohydrate, purine, and metal metabolism. Read More
Zhonghua Yi Xue Za Zhi 2008 Aug;88(30):2122-6
Department of Pediatric Endocrinology and Genetic Metabolism, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.
Objective: To investigate the effects of tandem mass spectrometry (MS/MS) combined with gas chromatography mass spectrometry (GC-MS) in the diagnosis of inborn errors of metabolism in children.
Methods: Amino acids and acylcarnitines in the dry blood filter papers were tested by MS/MS, and the organic acid profiles in urea were tested by GC-MS among 4981 children suspected to be with inborn errors of metabolism from more than 100 hospitals in China. A few pediatric patients underwent analysis of activity of enzyme and gene mutation analysis too. Read More