Wevers R - Search Results

1

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D. Schulze A, et al. Among authors: wevers r. J Pediatr. 1997 Oct;131(4):626-31. doi: 10.1016/s0022-3476(97)70075-1. J Pediatr. 1997. PMID: 9386672

2

alpha-N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis.

de Jong J, van den Berg C, Wijburg H, Willemsen R, van Diggelen O, Schindler D, Hoevenaars F, Wevers R. de Jong J, et al. Among authors: wevers r. J Pediatr. 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0. J Pediatr. 1994. PMID: 8071745

3

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins.

Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E, Pineda M, Vilaseca MA, Saudubray JM, Schlüter B, Wevers R, Van Schaftingen E. Jaeken J, et al. Among authors: wevers r. J Inherit Metab Dis. 1997 Jul;20(3):447-9. doi: 10.1023/a:1005331523477. J Inherit Metab Dis. 1997. PMID: 9266378 Clinical Trial. No abstract available.

4

Long-term follow up of a new case of hawkinsinuria.

Lehnert W, Stögmann W, Engelke U, Wevers RA, van den Berg GB. Lehnert W, et al. Among authors: wevers ra. Eur J Pediatr. 1999 Jul;158(7):578-82. doi: 10.1007/s004310051151. Eur J Pediatr. 1999. PMID: 10412819

5

Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.

Huemer M, Huber WD, Schima W, Moeslinger D, Holzbach U, Wevers R, Wank H, Stoeckler-Ipsiroglu S. Huemer M, et al. Among authors: wevers r. J Pediatr. 2000 May;136(5):691-5. doi: 10.1067/mpd.2000.105130. J Pediatr. 2000. PMID: 10802506

6

In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolism.

Moolenaar SH, van der Knaap MS, Engelke UF, Pouwels PJ, Janssen-Zijlstra FS, Verhoeven NM, Jakobs C, Wevers RA. Moolenaar SH, et al. Among authors: wevers ra. NMR Biomed. 2001 May;14(3):167-76. doi: 10.1002/nbm.690. NMR Biomed. 2001. PMID: 11357181

7

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

Wolf NI, Willemsen MA, Engelke UF, van der Knaap MS, Pouwels PJ, Harting I, Zschocke J, Sistermans EA, Rating D, Wevers RA. Wolf NI, et al. Among authors: wevers ra. Neurology. 2004 May 11;62(9):1503-8. doi: 10.1212/01.wnl.0000123094.13406.20. Neurology. 2004. PMID: 15136672

8

Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

Wolf NI, Haas D, Hoffmann GF, Jakobs C, Salomons GS, Wevers RA, Engelke UF, Rating D. Wolf NI, et al. Among authors: wevers ra. J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e. J Inherit Metab Dis. 2004. PMID: 15243989

9

beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities.

van Kuilenburg AB, Meinsma R, Beke E, Assmann B, Ribes A, Lorente I, Busch R, Mayatepek E, Abeling NG, van Cruchten A, Stroomer AE, van Lenthe H, Zoetekouw L, Kulik W, Hoffmann GF, Voit T, Wevers RA, Rutsch F, van Gennip AH. van Kuilenburg AB, et al. Among authors: wevers ra. Hum Mol Genet. 2004 Nov 15;13(22):2793-801. doi: 10.1093/hmg/ddh303. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385443

10

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.

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