Wevers R - Search Results

1

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J. Steinfeld R, et al. Among authors: wevers r. Am J Hum Genet. 2009 Sep;85(3):354-63. doi: 10.1016/j.ajhg.2009.08.005. Am J Hum Genet. 2009. PMID: 19732866 Free PMC article.

2

Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system.

Wevers RA, Hansen SI, van Hellenberg Hubar JL, Holm J, Høier-Madsen M, Jongen PJ. Wevers RA, et al. J Neurol Neurosurg Psychiatry. 1994 Feb;57(2):223-6. doi: 10.1136/jnnp.57.2.223. J Neurol Neurosurg Psychiatry. 1994. PMID: 8126512 Free PMC article.

3

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.

Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H. Sass JO, et al. Among authors: wevers ra. Am J Hum Genet. 2006 Mar;78(3):401-9. doi: 10.1086/500563. Epub 2006 Jan 18. Am J Hum Genet. 2006. PMID: 16465618 Free PMC article.

4

In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.

Henneke M, Dreha-Kulaczewski S, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, Dechent P, Heerschap A, Helms G, Wevers RA, Gärtner J. Henneke M, et al. Among authors: wevers ra. NMR Biomed. 2010 Jun;23(5):441-5. doi: 10.1002/nbm.1480. NMR Biomed. 2010. PMID: 20175147

5

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Among authors: wevers ra. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.

6

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Jansen JC, et al. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833332 Free PMC article.

7

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.

Luyten JA, Wenink PW, Steenbergen-Spanjers GC, Wevers RA, Ploos van Amstel HK, de Jong JG, van den Heuvel LP. Luyten JA, et al. Among authors: wevers ra. Hum Genet. 1995 Sep;96(3):357-60. doi: 10.1007/BF00210424. Hum Genet. 1995. PMID: 7649558 Free article.

8

Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency.

Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach J, Engelke UF, Hoard HM, Vockley JG, Vockley J. Binzak BA, et al. Among authors: wevers ra. Am J Hum Genet. 2001 Apr;68(4):839-47. doi: 10.1086/319520. Epub 2001 Feb 28. Am J Hum Genet. 2001. PMID: 11231903 Free PMC article.

9

Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.

Swaans RJ, Rondot P, Renier WO, Van Den Heuvel LP, Steenbergen-Spanjers GC, Wevers RA. Swaans RJ, et al. Among authors: wevers ra. Ann Hum Genet. 2000 Jan;64(Pt 1):25-31. doi: 10.1017/S0003480000007922. Ann Hum Genet. 2000. PMID: 11246459

10

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder.

Janssen RJ, Wevers RA, Häussler M, Luyten JA, Steenbergen-Spanjers GC, Hoffmann GF, Nagatsu T, Van den Heuvel LP. Janssen RJ, et al. Among authors: wevers ra. Ann Hum Genet. 2000 Sep;64(Pt 5):375-82. doi: 10.1046/j.1469-1809.2000.6450375.x. Ann Hum Genet. 2000. PMID: 11281275

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

531 results

Search Page