Van Spronsen FJ - Search Results

1

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Janssen AJ, et al. Among authors: van spronsen fj, van engelen bg, van der knaap ms, van den heuvel lp. Ann Neurol. 2008 Apr;63(4):473-81. doi: 10.1002/ana.21328. Ann Neurol. 2008. PMID: 18306232

2

Impaired prenatal and postnatal growth in Dutch patients with phenylketonuria. The National PKU Steering Committee.

Verkerk PH, van Spronsen FJ, Smit GP, Sengers RC. Verkerk PH, et al. Among authors: van spronsen fj. Arch Dis Child. 1994 Aug;71(2):114-8. doi: 10.1136/adc.71.2.114. Arch Dis Child. 1994. PMID: 7944529 Free PMC article.

3

MR spectroscopy of the brain in Leigh syndrome.

Sijens PE, Smit GP, Rödiger LA, van Spronsen FJ, Oudkerk M, Rodenburg RJ, Lunsing RJ. Sijens PE, et al. Among authors: van spronsen fj. Brain Dev. 2008 Oct;30(9):579-83. doi: 10.1016/j.braindev.2008.01.011. Epub 2008 Mar 10. Brain Dev. 2008. PMID: 18329833

4

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Hoefs SJ, et al. Among authors: van spronsen fj, van den heuvel lp. Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150889 Free PMC article.

5

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Körner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Timal S, et al. Among authors: van spronsen fj, van den heuvel l. Hum Mol Genet. 2012 Oct 1;21(19):4151-61. doi: 10.1093/hmg/dds123. Epub 2012 Apr 5. Hum Mol Genet. 2012. PMID: 22492991

6

Pathogenic variants in glutamyl-tRNA^Gln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Friederich MW, et al. Among authors: van hove jlk, van den brandt f, van spronsen fj. Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w. Nat Commun. 2018. PMID: 30283131 Free PMC article.

7

Predictors of mean phenylalanine levels during the first five years of life in patients with phenylketonuria who were treated early. Dutch National PKU Steering Committee.

Verkerk PH, van Spronsen FJ, van Houten M, Smit GP, Sengers RC. Verkerk PH, et al. Among authors: van houten m, van spronsen fj. Acta Paediatr Suppl. 1994 Dec;407:70-2. doi: 10.1111/j.1651-2227.1994.tb13456.x. Acta Paediatr Suppl. 1994. PMID: 7766963

8

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

van der Sijs-Bos CJ, Diepstraten CM, Juyn JA, Plaisier M, Giltay JC, van Spronsen FJ, Smit GP, Berger R, Smeitink JA, Poll-The BT, Ploos van Amstel JK. van der Sijs-Bos CJ, et al. Among authors: van spronsen fj. Hum Hered. 1996 Jul-Aug;46(4):185-90. doi: 10.1159/000154351. Hum Hered. 1996. PMID: 8807319

9

Does impaired growth of PKU patients correlate with the strictness of dietary treatment? National Dutch PKU Steering Committee.

van Spronsen FJ, Verkerk PH, van Houten M, Smit GP, van der Meer SB, Bakker HD, Sengers RC. van Spronsen FJ, et al. Among authors: van houten m, van der meer sb. Acta Paediatr. 1997 Aug;86(8):816-8. doi: 10.1111/j.1651-2227.1997.tb08603.x. Acta Paediatr. 1997. PMID: 9307159

10

A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake.

van Rijn M, Jansma J, Brinksma A, Bakker HD, Boers GH, Carbasius-Weber E, Douwes AC, van den Herberg A, Ter Horst NM, de Klerk JB, de Koning TJ, van den Ploeg L, Rubio-Gozalbo ME, Sels JP, Sengers RC, de Valk HW, Termeulen H, Zweers H, van Spronsen FJ. van Rijn M, et al. Among authors: van den ploeg l, van spronsen fj, van den herberg a. J Am Diet Assoc. 2008 Oct;108(10):1704-7. doi: 10.1016/j.jada.2008.07.008. J Am Diet Assoc. 2008. PMID: 18926138

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