Zobrazeno 1 - 10 of 65 pro vyhledávání: '"Strokelike episodes"'
1
Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl
Autor: Rajni Farmania, Puneet Jain, Suvasini Sharma, Satinder Aneja
Publikováno v: Journal of Child Neurology. 34:410-414
Congenital disorders of glycosylation (CDG) are multisystemic inherited metabolic disorders with marked phenotypic variability. The most frequent described type is PMM2-CDG (earlier known as CDG Type Ia) which presents either with pure neurologic fea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87982d195534322ae4ca7b584619b297
https://doi.org/10.1177/0883073819833543
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3
Akademický článek
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4
Metabolic stroke in childhood: Diagnostic approach and suggestions for therapy
Autor: Hanns Lochmüller, Gyula Acsadi, Rita Horvath
Publikováno v: Journal of Pediatric Neurology. :321-332
The central nervous system is particularly vulnerable to certain metabolic abnormalities that may result in energy failure and subsequent neuronal cell death with clinical presentation as strokelike episodes. The mitochondrion and its electron transp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b46b300a8f9c5fc140d23fab0967c271
https://doi.org/10.3233/jpn-2010-0404
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6
Strokelike Episodes and Cutis Marmorata Telangiectatica Congenita
Autor: Marc Engelen, Yvo B.W.E.M. Roos, Bwee Tien Poll-The, Liesbeth Reneman, Sander M. Van Schaik
Publikováno v: Journal of child neurology, 30(1), 129-132. SAGE Publications Inc.
We report the case of a boy with cutis marmorata telangiectatica congenita, strokelike episodes, and a pinpoint stenosis of the left internal carotid artery. To our knowledge, this is the first report of a stenosis of an intracranial artery in a pati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e75ae0bb5b1231f3ab369150d5a14e80
https://doi.org/10.1177/0883073813516675
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8
Changing phenotypic expression in a patient with a mitochondrial encephalopathy due to 13042G>A de novo mutation—a 5 year follow up
Autor: Hubert Kwieciński, Anna Kamińska, Jarosław Sławek, Agata Kodroń, Michał Schinwelski, Jarosław Dulski, Biruta Kierdaszuk, Ewa Bartnik, Emilia J. Sitek, Katarzyna Tońska
Publikováno v: Metabolic Brain Disease
Mutations in NADH dehydrogenase (ND) subunits of complex I lead to mitochondrial encephalomyopathies associated with various phenotypes. This report aims to present the patient’s clinical symptomatology in the context of a very rare 13042G>A de nov
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01530ffe3626ca35064839b472490063
https://doi.org/10.1007/s11011-014-9645-x
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9
Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms
Autor: Anna Pinto, Sanjay P. Prabhu, Ilana Neuberger, Mustafa Sahin, Kristina Julich, Masanori Takeoka
Publikováno v: Journal of Child Neurology. :088307381880163
Seizures, strokelike episodes, and headaches are common complications in patients with Sturge-Weber syndrome. Based on our experience, we hypothesized that patients with Sturge-Weber syndrome have frequent urgent neuroimaging studies when presenting
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d2cce431b8ef75b0da4c5702810ead7
https://doi.org/10.1177/0883073818801635
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