WFRF:(Wortmann S.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 06492naa a2200817 4500 | |
| 001 | oai:gup.ub.gu.se/309391 | |
| 003 | SwePub | |
| 008 | 240528s2021 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:91923fb2-2551-4bc0-b6e5-b9e54ab67190 | |
| 009 | oai:prod.swepub.kib.ki.se:147892867 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/3093912 URI |
| 024 | 7 | a https://doi.org/10.1002/acn3.514702 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/91923fb2-2551-4bc0-b6e5-b9e54ab671902 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1478928672 URI |
| 040 | a (SwePub)gud (SwePub)lud (SwePub)ki | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Hikmat, O.u Haukeland University Hospital,University of Bergen4 aut |
| 245 | 1 0 | a Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease |
| 264 | c 2021-10-18 | |
| 264 | 1 | b Wiley,c 2021 |
| 520 | a Objective: To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype-phenotype correlations and identify reliable prognostic disease markers. Methods: We performed a retrospective multinational cohort study of previously unpublished patients followed in 15 centres from 10 countries. Patients with confirmed biallelic pathogenic BCS1L variants were considered eligible. Clinical, laboratory, neuroimaging and genetic data were analysed. Patients were stratified into different groups based on the age of disease onset, whether homozygous or compound heterozygous for the c.232A>G (p.Ser78Gly) variant, and those with other pathogenic BCS1L variants. Results: Thirty-three patients were included. We found that growth failure, lactic acidosis, tubulopathy, hepatopathy and early death were more frequent in those with disease onset within the first month of life. In those with onset after 1 month, neurological features including movement disorders and seizures were more frequent. Novel phenotypes, particularly involving movement disorder, were identified in this group. The presence of the c.232A>G (p.Ser78Gly) variant was associated with significantly worse survival and exclusively found in those with disease onset within the first month of life, whilst other pathogenic BCS1L variants were more frequent in those with later symptom onset. Interpretation: The phenotypic spectrum of BCS1L-related disease comprises a continuum of clinical features rather than a set of separate syndromic clinical identities. Age of onset defines BCS1L-related disease clinically and early presentation is associated with poor prognosis. Genotype correlates with phenotype in the presence of the c.232A>G (p.Ser78Gly) variant. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 653 | a lethal metabolic-disorder | |
| 653 | a complex iii deficiency | |
| 653 | a gracile syndrome | |
| 653 | a iron-overload | |
| 653 | a bcs1l gene | |
| 653 | a mutations | |
| 653 | a protein | |
| 653 | a mechanism | |
| 653 | a Neurosciences & Neurology | |
| 700 | 1 | a Isohanni, P.u University of Helsinki4 aut |
| 700 | 1 | a Keshavan, N.u Great Ormond Street Hospital,UCL Institute of Child Health4 aut |
| 700 | 1 | a Ferla, M. P.u Wellcome Trust Centre for Human Genetics4 aut |
| 700 | 1 | a Fassone, E.u UCL Institute of Child Health4 aut |
| 700 | 1 | a Abbott, M. A.u University of Massachusetts Chan Medical School,UCL Institute of Child Health4 aut |
| 700 | 1 | a Bellusci, M.u 12 de Octubre University Hospital4 aut |
| 700 | 1 | a Darin, Niklas,d 1964u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics,Queen Silvia Children’s Hospital4 aut0 (Swepub:gu)xdarin |
| 700 | 1 | a Dimmock, D.u Rady Children’s Institute for Genomic Medicine4 aut |
| 700 | 1 | a Ghezzi, D.u University of Milan,Carlo Besta Neurological Institute, IRCCS4 aut |
| 700 | 1 | a Houlden, H.u University College London4 aut |
| 700 | 1 | a Invernizzi, F.u Carlo Besta Neurological Institute, IRCCS4 aut |
| 700 | 1 | a Jaman, N. B. K.u Karolinska Institute,Karolinska University Hospital4 aut |
| 700 | 1 | a Kurian, M. A.4 aut |
| 700 | 1 | a Morava, E.u Mayo Clinic Minnesota,University Hospitals Leuven4 aut |
| 700 | 1 | a Naess, K.4 aut |
| 700 | 1 | a Ortigoza-Escobar, J. D.u Biomedical Network on Rare Diseases (CIBERER)4 aut |
| 700 | 1 | a Parikh, S.u Cleveland Clinic Foundation4 aut |
| 700 | 1 | a Pennisi, A.u Necker-Enfants Malades Hospital4 aut |
| 700 | 1 | a Barcia, G.u Necker-Enfants Malades Hospital4 aut |
| 700 | 1 | a Tylleskar, K. B.u Haukeland University Hospital4 aut |
| 700 | 1 | a Brackman, D.u Haukeland University Hospital4 aut |
| 700 | 1 | a Wortmann, S. B.u Radboud University Medical Center,Paracelsus Private Medical University of Salzburg4 aut |
| 700 | 1 | a Taylor, J. C.u Wellcome Trust Centre for Human Genetics4 aut |
| 700 | 1 | a Bindoff, L. A.u University of Bergen,Haukeland University Hospital4 aut |
| 700 | 1 | a Fellman, Vinetau Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Folkhälsan Research Center,University of Helsinki4 aut0 (Swepub:lu)pedi-vfe |
| 700 | 1 | a Rahman, S.u UCL Institute of Child Health,Great Ormond Street Hospital4 aut |
| 710 | 2 | a Haukeland University Hospitalb University of Bergen4 org |
| 773 | 0 | t Annals of Clinical and Translational Neurologyd : Wileyg 8:11, s. 2155-2165q 8:11<2155-2165x 2328-9503 |
| 856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/acn3.51470 |
| 856 | 4 | u http://dx.doi.org/10.1002/acn3.51470x freey FULLTEXT |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/309391 |
| 856 | 4 8 | u https://doi.org/10.1002/acn3.51470 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/91923fb2-2551-4bc0-b6e5-b9e54ab67190 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:147892867 |
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