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Mitochondrial Clinical & Research Network (MCRN)

 

A multinational collaboration of experts on mitochondrial disease

 

Stockholm

Karin Naess, MD, PhD is Consultant in Child Neurology, at the Department of Pediatrics, Karolinska University Hospital, Stockholm, Sweden.

 

Dr Naess main area of research is mitochondrial diseases and neurometabolic diseases.

Martin Engvall, MD, consultant in neurology

Assistant director, Centre for inherited metabolic diseases, Karolinska University Hospital.

 

Dr Engvall works with biochemical and genetic diagnostics of inborn errors of metabolism.

Research project: Identification of new disease genes in inherited neurological disease.

 

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The group's five latest publications:

 

Sarcoplasmic body myopathy – a rare hereditary myopathy with characteristic inclusions

Engvall, ML; Åhlberg, G; Hedberg, B; Edström, L; Ansved, T

Source ACTA NEUROLOGICA SCANDINAVICA, 223–227. Volume: 112 Issue 2005

 

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function

BJURSELL, MK;BLOM, HJ;CAYUELA, JA;ENGVALL, ML;LESKO, N;BALASUBRAMANIAM, S;BRANDBERG, G;HALLDIN, M;FALKENBERG, M;JAKOBS, C;SMITH, D;STRUYS, E;VON DOBELN, U;GUSTAFSSON, CM;LUNDEBERG, J;WEDELL, A

American journal of human genetics, 507-15 Volume 89 Issue 4 2011

 

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid

FREYER, C;STRANNEHEIM, H;NAESS, K;MOURIER, A;FELSER, A;MAFFEZZINI, C;LESKO, N;BRUHN, H;ENGVALL, ML;WIBOM, R;BARBARO, M;HINZE, Y;MAGNUSSON, M;ANDEER, R;ZETTERSTROM, RH;VON DOBELN, U;WREDENBERG, A;WEDELL, A

Journal of medical genetics, 779-83 Volume 52 Issue 11 2015

 

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

STRANNEHEIM, H;ENGVALL, ML;NAESS, K;LESKO, N;LARSSON, P;DAHLBERG, M;ANDEER, R;WREDENBERG, A;FREYER, C;BARBARO, M;BRUHN, H;EMAHAZION, T;MAGNUSSON, M;WIBOM, R;ZETTERSTROM, RH;WIRTA, V;VON DOBELN, U;WEDELL, A

BMC genomics, Volume 15 Issue 2014

 

ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients

VAN KUILENBURG, AB;DOBRITZSCH, D;MEIJER, J;KRUMPEL, M;SELIM, LA;RASHED, MS;ASSMANN, B;MEINSMA, R;LOHKAMP, B;ITO, T;ABELING, NG;SAITO, K;ETO, K;SMITKA, ML;ENGVALL, M;ZHANG, C;XU, W;ZOETEKOUW, L;HENNEKAM, RC

Biochimica et biophysica acta, 1096-108 Volume 1822 Issue 7 2012