De Meirleir LJ - Search Results

1

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy.

Tein I, De Vivo DC, Bierman F, Pulver P, De Meirleir LJ, Cvitanovic-Sojat L, Pagon RA, Bertini E, Dionisi-Vici C, Servidei S, et al. Tein I, et al. Among authors: de meirleir lj. Pediatr Res. 1990 Sep;28(3):247-55. doi: 10.1203/00006450-199009000-00020. Pediatr Res. 1990. PMID: 2235122 Review.

2

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

Lamhonwah AM, Olpin SE, Pollitt RJ, Vianey-Saban C, Divry P, Guffon N, Besley GT, Onizuka R, De Meirleir LJ, Cvitanovic-Sojat L, Baric I, Dionisi-Vici C, Fumic K, Maradin M, Tein I. Lamhonwah AM, et al. Among authors: de meirleir lj. Am J Med Genet. 2002 Aug 15;111(3):271-84. doi: 10.1002/ajmg.10585. Am J Med Genet. 2002. PMID: 12210323

3

Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defects.

De Paepe B, Smet J, Vanlander A, Seneca S, Lissens W, De Meirleir L, Vandewoestyne M, Deforce D, Rodenburg RJ, Van Coster R. De Paepe B, et al. Pediatr Res. 2012 Sep;72(3):232-40. doi: 10.1038/pr.2012.84. Epub 2012 Jun 22. Pediatr Res. 2012. PMID: 22728747

4

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects.

Van Coster R, Smet J, George E, De Meirleir L, Seneca S, Van Hove J, Sebire G, Verhelst H, De Bleecker J, Van Vlem B, Verloo P, Leroy J. Van Coster R, et al. Pediatr Res. 2001 Nov;50(5):658-65. doi: 10.1203/00006450-200111000-00020. Pediatr Res. 2001. PMID: 11641463

5

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

Dionisi-Vici C, Seneca S, Zeviani M, Fariello G, Rimoldi M, Bertini E, De Meirleir L. Dionisi-Vici C, et al. J Inherit Metab Dis. 1998 Feb;21(1):2-8. doi: 10.1023/a:1005397227996. J Inherit Metab Dis. 1998. PMID: 9501263

6

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A. Kölker S, et al. J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. J Inherit Metab Dis. 2015. PMID: 25875216

7

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

Scalais E, Bottu J, Wanders RJ, Ferdinandusse S, Waterham HR, De Meirleir L. Scalais E, et al. Am J Med Genet A. 2015 Jan;167A(1):211-4. doi: 10.1002/ajmg.a.36803. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25338548

8

E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.

Bonne G, Benelli C, De Meirleir L, Lissens W, Chaussain M, Diry M, Clot JP, Ponsot G, Geoffroy V, Leroux JP, et al. Bonne G, et al. Pediatr Res. 1993 Mar;33(3):284-8. doi: 10.1203/00006450-199303000-00016. Pediatr Res. 1993. PMID: 8460066

9

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. Kölker S, et al. J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. J Inherit Metab Dis. 2015. PMID: 25875215

10

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.

de Paepe B, Smet J, Leroy JG, Seneca S, George E, Matthys D, van Maldergem L, Scalais E, Lissens W, de Meirleir L, Meulemans A, van Coster R. de Paepe B, et al. Pediatr Res. 2006 Jan;59(1):2-6. doi: 10.1203/01.pdr.0000191294.34122.ab. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16327006

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