Mienie LJ - Search Results

1

Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination.

Honey EM, van Rensburg M, Knoll DP, Mienie LJ, van de Werke I, Beighton P. Honey EM, et al. Among authors: mienie lj. Clin Dysmorphol. 2003 Apr;12(2):95-9. doi: 10.1097/00019605-200304000-00004. Clin Dysmorphol. 2003. PMID: 12868470

2

ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.

Dercksen M, Crutchley AC, Honey EM, Lippert MM, Matthijs G, Mienie LJ, Schuman HC, Vorster BC, Jaeken J. Dercksen M, et al. Among authors: mienie lj. JIMD Rep. 2013;8:17-23. doi: 10.1007/8904_2012_150. Epub 2012 Jul 1. JIMD Rep. 2013. PMID: 23430515 Free PMC article.

3

An atypical carbohydrate-deficient glycoprotein (CDG) syndrome patient in South Africa.

du Plessis JA, Pretorius PJ, Lippert MM, Knoll DP, Erasmus E, van der Westhuizen FH, Mienie LJ. du Plessis JA, et al. Among authors: mienie lj. S Afr Med J. 2001 May;91(5):392-4. S Afr Med J. 2001. PMID: 11455799 No abstract available.

4

Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Dercksen M, Duran M, Ijlst L, Mienie LJ, Reinecke CJ, Ruiter JP, Waterham HR, Wanders RJ. Dercksen M, et al. Among authors: mienie lj. J Inherit Metab Dis. 2012 Nov;35(6):1021-9. doi: 10.1007/s10545-012-9457-2. Epub 2012 Feb 17. J Inherit Metab Dis. 2012. PMID: 22350545

5

Polyunsaturated fatty acid status in treated isovaleric acidemia patients.

Dercksen M, Kulik W, Mienie LJ, Reinecke CJ, Wanders RJ, Duran M. Dercksen M, et al. Among authors: mienie lj. Eur J Clin Nutr. 2016 Oct;70(10):1123-1126. doi: 10.1038/ejcn.2016.100. Epub 2016 Jun 22. Eur J Clin Nutr. 2016. PMID: 27329611

6

Urinary excretion of homocitric acid and methylhomocitric acid in propionic acidaemia: minor metabolic products of the citrate synthase aldol condensation reaction.

van Rooyen JP, Mienie LJ, Erasmus E, de Wet WJ, Duran M, Wadman SK. van Rooyen JP, et al. Among authors: mienie lj. Clin Chim Acta. 1994 Oct 14;230(1):91-9. doi: 10.1016/0009-8981(94)90092-2. Clin Chim Acta. 1994. PMID: 7850997

7

Amino-acid depletion induced by abnormal amino-acid conjugation and protein restriction in isovaleric acidemia.

Loots DT, Mienie LJ, Erasmus E. Loots DT, et al. Among authors: mienie lj. Eur J Clin Nutr. 2007 Nov;61(11):1323-7. doi: 10.1038/sj.ejcn.1602648. Epub 2007 Feb 7. Eur J Clin Nutr. 2007. PMID: 17299485

8

Postnatal and antenatal laboratory diagnosis of glutaric aciduria II in a South African family.

Henderson HE, Balla R, de Jong G, Piek CJ, Mienie LJ, Erasmus E. Henderson HE, et al. Among authors: mienie lj. S Afr Med J. 1987 May 2;71(9):589-91. S Afr Med J. 1987. PMID: 3576410

9

Identification of the stereoisomeric configurations of methylcitric acid produced by si-citrate synthase and methylcitrate synthase using capillary gas chromatography-mass spectrometry.

van Rooyen JP, Mienie LJ, Erasmus E, De Wet WJ, Ketting D, Duran M, Wadman SK. van Rooyen JP, et al. Among authors: mienie lj. J Inherit Metab Dis. 1994;17(6):738-47. doi: 10.1007/BF00712017. J Inherit Metab Dis. 1994. PMID: 7707698

10

Prenatal analysis in two suspected cases of glutathione synthetase deficiency.

Erasmus E, Mienie LJ, de Vries WN, de Wet WJ, Carlsson B, Larsson A. Erasmus E, et al. Among authors: mienie lj. J Inherit Metab Dis. 1993;16(5):837-43. doi: 10.1007/BF00714275. J Inherit Metab Dis. 1993. PMID: 8295398

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