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Niklas Darin

Professor/ chief physician

Niklas Darin
Professor/ chief physician
niklas.darin@gu.se

Postal Address: Drottning silvias barn o ungdomsjukh, 41685 Göteborg
Visiting Address: Drottning silvias barn o ungdomsjukh , 41685 Göteborg


Department of Pediatrics at Institute of Clinical Sciences (More Information)
Drottning Silvias Barn O ungdomsjukh
416 85 Göteborg
Visiting Address: Drottning Silvias Barn O ungdomsjukh , 416 85 Göteborg

Latest publications

Structural anomaly in the reticular formation in narcolepsy type 1, suggesting lower levels of neuromelanin
N. M. Drissi, M. Warntjes, A. Wessén, Attila Szakacs, Niklas Darin et al.
NeuroImage: Clinical, Journal article 2019
Journal article

Unexpected Fat Distribution in Adolescents With Narcolepsy
N. M. Drissi, T. Romu, A. M. Landtblom, A. Szakacs, Tove Hallböök et al.
Frontiers in Endocrinology, Journal article 2018
Journal article

Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications.
Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen et al.
Epilepsia, Journal article 2018
Journal article

γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1.
Niklas Darin, Karin Leckström, Per Sikora, Julia Lindgren, Gabriella Almén et al.
European journal of human genetics : EJHG, Journal article 2018
Journal article

Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease.
Emil Westerlund, Sigurður E Marelsson, Johannes K Ehinger, Fredrik Sjövall, Saori Morota et al.
Pediatric research, Journal article 2018
Journal article

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.
Kalliopi Sofou, Irenaeus F M de Coo, Elsebet Ostergaard, Pirjo Isohanni, Karin Naess et al.
Journal of medical genetics, Journal article 2018
Journal article

Showing 11 - 20 of 97

2017

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
R. R. Maas, K. Iwanicka-Pronicka, S. Kalkan Ucar, B. Alhaddad, M. AlSayed et al.
Annals of Neurology, Journal article 2017
Journal article

Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors
J. D. Ortigoza-Escobar, M. Alfadhel, M. Molero-Luis, Niklas Darin, R. Spiegel et al.
Annals of Neurology, Journal article 2017
Journal article

The immunogenetics of narcolepsy associated with A(H1N1)pdm09 vaccination (Pandemrix) supports a potent gene-environment interaction.
I L Bomfim, F Lamb, K Fink, A Szakács, A Silveira et al.
Genes and immunity, Journal article 2017
Journal article

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton et al.
Neuropediatrics, Journal article 2017
Journal article

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
Maja Tarailo-Graovac, Britt I Drögemöller, Wyeth W Wasserman, Colin J D Ross, Ans M W van den Ouweland et al.
Orphanet journal of rare diseases, Journal article 2017
Journal article

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal et al.
Journal of inherited metabolic disease, Journal article 2017
Journal article

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Esther Meyer, Keren J Carss, Julia Rankin, John M E Nichols, Detelina Grozeva et al.
Nature genetics, Journal article 2017
Journal article

Showing 11 - 20 of 97

Page Manager: Katarina Olinder Eriksson|Last update: 10/1/2013
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