Wibrand F - Search Results

1

A Patient With Pyruvate Carboxylase Deficiency and Nemaline Rods on Muscle Biopsy.

Unal O, Orhan D, Ostergaard E, Tokatli A, Dursun A, Ozturk-Hismi B, Coskun T, Wibrand F, Kalkanoglu-Sivri HS. Unal O, et al. Among authors: wibrand f. J Child Neurol. 2013 Nov;28(11):1505-1508. doi: 10.1177/0883073812458710. Epub 2012 Sep 10. J Child Neurol. 2013. PMID: 22965558

2

[Mitochondrial diseases. Clinical features, investigation and genetics].

Østergaard E, Wibrand F, Horn N, Brøndum-Nielsen K. Østergaard E, et al. Among authors: wibrand f. Ugeskr Laeger. 2003 Feb 10;165(7):663-8. Ugeskr Laeger. 2003. PMID: 12617042 Review. Danish.

3

Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria.

Østergaard E, Wibrand F, Ørngreen MC, Vissing J, Horn N. Østergaard E, et al. Among authors: wibrand f. Neurology. 2005 Sep 27;65(6):931-3. doi: 10.1212/01.wnl.0000176065.80560.26. Neurology. 2005. PMID: 16186538

4

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.

Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: wibrand f. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265

5

Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency.

Ostergaard E, Duno M, Møller LB, Kalkanoglu-Sivri HS, Dursun A, Aliefendioglu D, Leth H, Dahl M, Christensen E, Wibrand F. Ostergaard E, et al. Among authors: wibrand f. JIMD Rep. 2013;9:1-5. doi: 10.1007/8904_2012_173. Epub 2012 Aug 31. JIMD Rep. 2013. PMID: 23430542 Free PMC article.

6

A mitochondrial tRNA(Met) mutation causing developmental delay, exercise intolerance and limb girdle phenotype with onset in early childhood.

Born AP, Duno M, Rafiq J, Risom L, Wibrand F, Østergaard E, Vissing J. Born AP, et al. Among authors: wibrand f. Eur J Paediatr Neurol. 2015 Jan;19(1):69-71. doi: 10.1016/j.ejpn.2014.10.006. Epub 2014 Nov 1. Eur J Paediatr Neurol. 2015. PMID: 25468263

7

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

Ravn K, Schönewolf-Greulich B, Hansen RM, Bohr AH, Duno M, Wibrand F, Ostergaard E. Ravn K, et al. Among authors: wibrand f. Mol Genet Metab Rep. 2015 Feb 20;3:5-10. doi: 10.1016/j.ymgmr.2015.01.004. eCollection 2015 Jun. Mol Genet Metab Rep. 2015. PMID: 26937387 Free PMC article.

8

Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

Grønborg S, Darin N, Miranda MJ, Damgaard B, Cayuela JA, Oldfors A, Kollberg G, Hansen TVO, Ravn K, Wibrand F, Østergaard E. Grønborg S, et al. Among authors: wibrand f. JIMD Rep. 2017;33:69-77. doi: 10.1007/8904_2016_582. Epub 2016 Sep 8. JIMD Rep. 2017. PMID: 27604842 Free PMC article.

9

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Ostergaard E, et al. Among authors: wibrand f. Brain. 2007 Mar;130(Pt 3):853-61. doi: 10.1093/brain/awl383. Epub 2007 Feb 7. Brain. 2007. PMID: 17287286

10

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F. Ostergaard E, et al. Among authors: wibrand f. Am J Hum Genet. 2007 Aug;81(2):383-7. doi: 10.1086/519222. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668387 Free PMC article.

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