Search: onr:"swepub:oai:gup.ub.gu.se/259600" >
Thiamine deficiency...
-
Ortigoza-Escobar, J. D.
(author)
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors
- Article/chapterEnglish2017
Publisher, publication year, extent ...
Numbers
-
LIBRIS-ID:oai:gup.ub.gu.se/259600
-
https://gup.ub.gu.se/publication/259600URI
-
https://doi.org/10.1002/ana.24998DOI
Supplementary language notes
Part of subdatabase
Classification
-
Subject category:ref swepub-contenttype
-
Subject category:art swepub-publicationtype
Notes
-
Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology. We propose diagnostic criteria that will aid clinicians to establish a faster and accurate diagnosis so that early vitamin supplementation is considered. Ann Neurol 2017;82:317–330. © 2017 American Neurological Association
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
-
Alfadhel, M.
(author)
-
Molero-Luis, M.
(author)
-
Darin, Niklas,1964Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xdarin
(author)
-
Spiegel, R.
(author)
-
de Coo, I. F.
(author)
-
Gerards, M.
(author)
-
Taylor, R. W.
(author)
-
Artuch, R.
(author)
-
Nashabat, M.
(author)
-
Rodríguez-Pombo, P.
(author)
-
Tabarki, B.
(author)
-
Pérez-Dueñas, B.
(author)
-
Distelmaier, F.
(author)
-
Hahn, A.
(author)
-
Morava, E.
(author)
-
Banka, S.
(author)
-
Debs, R.
(author)
-
Fraser, J. L.
(author)
-
Isohanni, P.
(author)
-
Lähdesmäki, T.
(author)
-
Livingston, J.
(author)
-
Nadjar, Y.
(author)
-
Schuler, E.
(author)
-
Uusimaa, J.
(author)
-
Vanderver, A.
(author)
-
Friedman, J. R.
(author)
-
Zimbric, M. R.
(author)
-
McFarland, R.
(author)
-
Santra, S.
(author)
-
Wassmer, E.
(author)
-
Martí-Sanchez, L.
(author)
-
Darling, A.
(author)
-
Göteborgs universitetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik
(creator_code:org_t)
Related titles
-
In:Annals of Neurology: Wiley82:3, s. 317-3300364-5134
Internet link
Find in a library
To the university's database
- By the author/editor
-
Ortigoza-Escobar ...
-
Alfadhel, M.
-
Molero-Luis, M.
-
Darin, Niklas, 1 ...
-
Spiegel, R.
-
de Coo, I. F.
-
show more...
-
Gerards, M.
-
Taylor, R. W.
-
Artuch, R.
-
Nashabat, M.
-
Rodríguez-Pombo, ...
-
Tabarki, B.
-
Pérez-Dueñas, B.
-
Distelmaier, F.
-
Hahn, A.
-
Morava, E.
-
Banka, S.
-
Debs, R.
-
Fraser, J. L.
-
Isohanni, P.
-
Lähdesmäki, T.
-
Livingston, J.
-
Nadjar, Y.
-
Schuler, E.
-
Uusimaa, J.
-
Vanderver, A.
-
Friedman, J. R.
-
Zimbric, M. R.
-
McFarland, R.
-
Santra, S.
-
Wassmer, E.
-
Martí-Sanchez, L ...
-
Darling, A.
-
show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
-
MEDICAL AND HEAL ...
-
and Clinical Medicin ...
-
and Pediatrics
- Articles in the publication
-
Annals of Neurol ...
- By the university
-
University of Gothenburg