Wevers RA - Search Results

1

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Wortmann SB, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Wortmann SB, et al. Among authors: wevers ra. Neuropediatrics. 2015 Apr;46(2):98-103. doi: 10.1055/s-0034-1399755. Epub 2015 Feb 2. Neuropediatrics. 2015. PMID: 25642805 Free article.

2

Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia.

Smeitink J, Stadhouders A, Sengers R, Ruitenbeek W, Wevers R, ter Laak H, Trijbels F. Smeitink J, et al. Neuromuscul Disord. 1992;2(1):35-40. doi: 10.1016/0960-8966(92)90024-z. Neuromuscul Disord. 1992. PMID: 1525556

3

Mitochondrial creatine kinase activity in patients with disturbed energy generation in muscle mitochondria.

Smeitink J, Ruitenbeek W, Sengers R, Wevers R, van Lith T, Trijbels F. Smeitink J, et al. J Inherit Metab Dis. 1994;17(1):67-73. doi: 10.1007/BF00735397. J Inherit Metab Dis. 1994. PMID: 8051938

4

Dihydropyrimidinase deficiency, a progressive neurological disorder?

Putman CW, Rotteveel JJ, Wevers RA, van Gennip AH, Bakkeren JA, De Abreu RA. Putman CW, et al. Among authors: wevers ra. Neuropediatrics. 1997 Apr;28(2):106-10. doi: 10.1055/s-2007-973681. Neuropediatrics. 1997. PMID: 9208410 Free article.

5

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

Grünewald S, Huyben K, de Jong JG, Smeitink JA, Rubio E, Boers GH, Conradt HS, Wendel U, Wevers RA. Grünewald S, et al. Among authors: wevers ra. Biochim Biophys Acta. 1999 Sep 20;1455(1):54-60. doi: 10.1016/s0925-4439(99)00078-2. Biochim Biophys Acta. 1999. PMID: 10524229 Free article.

6

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA. Bräutigam C, et al. Among authors: wevers ra. Clin Chem. 1999 Dec;45(12):2073-8. Clin Chem. 1999. PMID: 10585338

7

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome.

Jira PE, Wanders RJ, Smeitink JA, De Jong J, Wevers RA, Oostheim W, Tuerlings JH, Hennekam RC, Sengers RC, Waterham HR. Jira PE, et al. Among authors: wevers ra. Ann Hum Genet. 2001 May;65(Pt 3):229-36. doi: 10.1017/S0003480001008600. Ann Hum Genet. 2001. PMID: 11427181

8

Clinical and laboratory findings in twins with neonatal epileptic encephalopathy mimicking aromatic L-amino acid decarboxylase deficiency.

Bräutigam C, Hyland K, Wevers R, Sharma R, Wagner L, Stock GJ, Heitmann F, Hoffmann GF. Bräutigam C, et al. Neuropediatrics. 2002 Jun;33(3):113-7. doi: 10.1055/s-2002-33673. Neuropediatrics. 2002. PMID: 12200739

9

Proteomics and neuromuscular diseases: theoretical concept and first results.

van den Heuvel LP, Farhoud MH, Wevers RA, van Engelen BG, Smeitink JA. van den Heuvel LP, et al. Among authors: wevers ra. Ann Clin Biochem. 2003 Jan;40(Pt 1):9-15. doi: 10.1258/000456303321016123. Ann Clin Biochem. 2003. PMID: 12542906 Review.

10

Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria.

Morava E, Kosztolányi G, Engelke UF, Wevers RA. Morava E, et al. Among authors: wevers ra. Ann Clin Biochem. 2003 Jan;40(Pt 1):108-11. doi: 10.1258/000456303321016268. Ann Clin Biochem. 2003. PMID: 12542920

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