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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 21 - 30 of 97

2016

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.
Sabine Grønborg, Niklas Darin, Maria J Miranda, Bodil Damgaard, Jorge Asin-Cayuela et al.
JIMD reports, Journal article 2016
Journal article

A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
Carola Oldfors Hedberg, Niklas Darin, Mia Olsson Engman, Zacharias Orfanos, Christer Thomsen et al.
European journal of human genetics : EJHG, Journal article 2016
Journal article

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Niklas Darin, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A Husain et al.
American journal of human genetics, Journal article 2016
Journal article

Altered Brain Microstate Dynamics in Adolescents with Narcolepsy
N. M. Drissi, Attila Szakacs, S. T. Witt, A. Wretman, M. Ulander et al.
Frontiers in Human Neuroscience, Journal article 2016
Journal article

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino et al.
Journal of inherited metabolic disease, Journal article 2016
Journal article

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, Alfonso Oyarzabal, Niklas Darin et al.
Brain : a journal of neurology, Journal article 2016
Journal article

2015

Ophthalmological and genetic findings in children with Leigh syndrome - a long-term follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin et al.
WSPOS (World Society of Paediatric Ophthalmology and Strabismus), Barcelona, Spanien, 3-5 sept 2015., Poster 2015
Poster

Ophthalmological findings in children with Leigh syndrome - a long-term follow-up
Susann Andersson, R Åkebrand, Antovan Seyedi Honarvar , Kalliopi Sofou, Niklas Darin et al.
NPOG, Åland, Finland, 10-12 juni 2015. Föredrag., Conference contribution 2015
Conference contribution

Showing 21 - 30 of 97

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