de Jong J - Search Results

1

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.

Mourmans J, Bakkeren J, de Jong J, Wevers R, van Diggelen OP, Suormala T, Baumgartner R, Wendel U. Mourmans J, et al. Among authors: de jong j. J Inherit Metab Dis. 1995;18(5):643-5. doi: 10.1007/BF02436014. J Inherit Metab Dis. 1995. PMID: 8598650 No abstract available.

2

Glutaric aciduria mediated by gut bacteria.

Wendel U, Bakkeren J, de Jong J, Bongaerts G. Wendel U, et al. Among authors: de jong j. J Inherit Metab Dis. 1995;18(3):358-9. doi: 10.1007/BF00710431. J Inherit Metab Dis. 1995. PMID: 7474906 No abstract available.

3

Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection.

Wanders RJ, Romeijn GJ, Wijburg F, Hennekam RC, de Jong J, Wevers RA, Dacremont G. Wanders RJ, et al. Among authors: de jong j. J Inherit Metab Dis. 1997 Jul;20(3):432-6. doi: 10.1023/a:1005371104822. J Inherit Metab Dis. 1997. PMID: 9266374 No abstract available.

4

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. J Pediatr. 1994 Sep;125(3):385-91. doi: 10.1016/s0022-3476(05)83281-0. J Pediatr. 1994. PMID: 8071745

5

2-Hydroxyglutaric aciduria: a case report on an infant with the D-isomeric form with review of the literature.

Geerts Y, Renier WO, Bakkeren J, de Jong J. Geerts Y, et al. Among authors: de jong j. J Neurol Sci. 1996 Nov;143(1-2):166-9. doi: 10.1016/s0022-510x(96)00179-7. J Neurol Sci. 1996. PMID: 8981317 Review.

6

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: de jong j. Ann Hum Genet. 2001 May;65(Pt 3):229-36. doi: 10.1017/S0003480001008600. Ann Hum Genet. 2001. PMID: 11427181

7

Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome.

Jira PE, Wevers RA, de Jong J, Rubio-Gozalbo E, Janssen-Zijlstra FS, van Heyst AF, Sengers RC, Smeitink JA. Jira PE, et al. Among authors: de jong j. J Lipid Res. 2000 Aug;41(8):1339-46. J Lipid Res. 2000. PMID: 10946022 Free article.

8

Beta-mannosidosis and ethanolaminuria in a female patient.

Wijburg H, de Jong J, Wevers R, Bakkeren J, Trijbels F, Sengers R. Wijburg H, et al. Among authors: de jong j. Eur J Pediatr. 1992 Apr;151(4):311. doi: 10.1007/BF02072238. Eur J Pediatr. 1992. PMID: 1499588 No abstract available.

9

New treatment strategy for Smith-Lemli-Opitz syndrome.

Jira P, Wevers R, de Jong J, Rubio-Gozalbo E, Smeitink J. Jira P, et al. Among authors: de jong j. Lancet. 1997 Apr 26;349(9060):1222. doi: 10.1016/S0140-6736(05)62415-4. Lancet. 1997. PMID: 9130950 Free article. No abstract available.

10

A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Vervoort R, Islam MR, Sly W, Chabas A, Wevers R, de Jong J, Liebaers I, Lissens W. Vervoort R, et al. Among authors: de jong j. Am J Hum Genet. 1995 Oct;57(4):798-804. Am J Hum Genet. 1995. PMID: 7573038 Free PMC article.

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