De Jong JG - Search Results

1

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

Simon A, Kremer HP, Wevers RA, Scheffer H, De Jong JG, Van Der Meer JW, Drenth JP. Simon A, et al. Among authors: de jong jg. Neurology. 2004 Mar 23;62(6):994-7. doi: 10.1212/01.wnl.0000115390.33405.f7. Neurology. 2004. PMID: 15037710

2

Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.

Hageman AT, Gabreëls FJ, de Jong JG, Gabreëls-Festen AA, van den Berg CJ, van Oost BA, Wevers RA. Hageman AT, et al. Among authors: de jong jg. Arch Neurol. 1995 Apr;52(4):408-13. doi: 10.1001/archneur.1995.00540280098023. Arch Neurol. 1995. PMID: 7710377 Free article.

3

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M. Drenth JP, et al. Among authors: de jong jg. Nat Genet. 1999 Jun;22(2):178-81. doi: 10.1038/9696. Nat Genet. 1999. PMID: 10369262

4

Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue.

de Jong JG, Wevers RA, Liebrand-van Sambeek R. de Jong JG, et al. Clin Chem. 1992 Jun;38(6):803-7. Clin Chem. 1992. PMID: 1597005

5

High-performance liquid chromatography of monosaccharides and oligosaccharides in a complex biological matrix.

Peelen GO, de Jong JG, Wevers RA. Peelen GO, et al. Among authors: de jong jg. Anal Biochem. 1991 Nov 1;198(2):334-41. doi: 10.1016/0003-2697(91)90435-v. Anal Biochem. 1991. PMID: 1799219

6

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

Ploos van Amstel JK, Jansen RP, de Jong JG, Hamel BC, Wevers RA. Ploos van Amstel JK, et al. Among authors: de jong jg. Hum Mol Genet. 1994 Mar;3(3):503-5. doi: 10.1093/hmg/3.3.503. Hum Mol Genet. 1994. PMID: 8012363 No abstract available.

7

Mucopolysaccharidoses screening: dimethylmethylene blue versus alcian blue.

de Jong JG, Heijs WM, Wevers RA. de Jong JG, et al. Ann Clin Biochem. 1994 May;31 ( Pt 3):267-71. doi: 10.1177/000456329403100309. Ann Clin Biochem. 1994. PMID: 8067668

8

HPLC analysis of oligosaccharides in urine from oligosaccharidosis patients.

Peelen GO, de Jong JG, Wevers RA. Peelen GO, et al. Among authors: de jong jg. Clin Chem. 1994 Jun;40(6):914-21. Clin Chem. 1994. PMID: 8087986

9

Extraction and purification of gangliosides from plasma and fibroblasts before analysis by thin layer chromatography.

Leenders RG, de Jong JG, Wevers RA. Leenders RG, et al. Among authors: de jong jg. Ann Clin Biochem. 1995 Jan;32 ( Pt 1):68-73. doi: 10.1177/000456329503200106. Ann Clin Biochem. 1995. PMID: 7762953

10

Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase.

Ruitenbeek W, Kobayashi K, Iijima M, Smeitink JA, Engelke UF, De Abreu RA, Kwast HT, Saheki T, Boelen CA, De Jong JG, Wevers RA. Ruitenbeek W, et al. Among authors: de jong jg, de abreu ra. Ann Clin Biochem. 2003 Jan;40(Pt 1):102-7. doi: 10.1258/000456303321016259. Ann Clin Biochem. 2003. PMID: 12542919

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