Leroy J - Search Results

1

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. Among authors: leroy j. Pediatr Res. 2001 Nov;50(5):658-65. doi: 10.1203/00006450-200111000-00020. Pediatr Res. 2001. PMID: 11641463

2

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. Among authors: leroy jg. 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

3

Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.

Smet J, Seneca S, De Paepe B, Meulemans A, Verhelst H, Leroy J, De Meirleir L, Lissens W, Van Coster R. Smet J, et al. Among authors: leroy j. Electrophoresis. 2009 Oct;30(20):3565-72. doi: 10.1002/elps.200900213. Electrophoresis. 2009. PMID: 19862739

4

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.

Van Coster R, Seneca S, Smet J, Van Hecke R, Gerlo E, Devreese B, Van Beeumen J, Leroy JG, De Meirleir L, Lissens W. Van Coster R, et al. Among authors: leroy jg. Am J Med Genet A. 2003 Jul 1;120A(1):13-8. doi: 10.1002/ajmg.a.10202. Am J Med Genet A. 2003. PMID: 12794685

5

Aminoacylase I deficiency: a novel inborn error of metabolism.

Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W. Van Coster RN, et al. Among authors: leroy jg. Biochem Biophys Res Commun. 2005 Dec 23;338(3):1322-6. doi: 10.1016/j.bbrc.2005.10.126. Epub 2005 Nov 2. Biochem Biophys Res Commun. 2005. PMID: 16274666

6

MRI findings in a neonate with cerebellar agenesis.

Van Coster RN, De Praeter CM, Vanhaesebrouck PJ, Leroy JG. Van Coster RN, et al. Among authors: leroy jg. Pediatr Neurol. 1998 Aug;19(2):139-42. doi: 10.1016/s0887-8994(98)00023-x. Pediatr Neurol. 1998. PMID: 9744635

7

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.

Van Coster RN, Janssens S, Misson JP, Verloes A, Leroy JG. Van Coster RN, et al. Among authors: leroy jg. Prenat Diagn. 1998 Oct;18(10):1041-4. doi: 10.1002/(sici)1097-0223(1998100)18:10<1041::aid-pd407>3.0.co;2-j. Prenat Diagn. 1998. PMID: 9826895

8

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA. Leroy JG, et al. Am J Hum Genet. 2001 Jun;68(6):1419-27. doi: 10.1086/320598. Epub 2001 Apr 18. Am J Hum Genet. 2001. PMID: 11326336 Free PMC article.

9

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

Loeys BL, Van Coster RN, Defreyne LR, Leroy JG. Loeys BL, et al. Among authors: leroy jg. Eur J Pediatr. 1999 Aug;158(8):650-2. doi: 10.1007/s004310051169. Eur J Pediatr. 1999. PMID: 10445344

10

Fibrotic eye muscles, Axenfeld anomaly, flat face, and mild developmental retardation: a new example of the Chitty syndrome.

Van Daele SG, Van Coster RN, Meire F, Smets AM, Leroy JG. Van Daele SG, et al. Among authors: leroy jg. Am J Med Genet. 1996 Oct 28;65(3):205-8. doi: 10.1002/(SICI)1096-8628(19961028)65:3<205::AID-AJMG6>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 9240744

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