Olpin SE - Search Results

1

Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.

Cleary MA, Dorland L, de Koning TJ, Poll-The BT, Duran M, Mandell R, Shih VE, Berger R, Olpin SE, Besley GT. Cleary MA, et al. Among authors: olpin se. J Inherit Metab Dis. 2005;28(5):673-9. doi: 10.1007/s10545-005-0074-1. J Inherit Metab Dis. 2005. PMID: 16151897

2

Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation.

Chakrapani A, Olpin S, Cleary M, Walter JH, Wraith JE, Besley GT. Chakrapani A, et al. J Inherit Metab Dis. 2000 Dec;23(8):826-34. doi: 10.1023/a:1026712719416. J Inherit Metab Dis. 2000. PMID: 11196108

3

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.

Olpin SE, Pollitt RJ, McMenamin J, Manning NJ, Besley G, Ruiter JP, Wanders RJ. Olpin SE, et al. J Inherit Metab Dis. 2002 Oct;25(6):477-82. doi: 10.1023/a:1021251202287. J Inherit Metab Dis. 2002. PMID: 12555940

4

Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency.

Worthington H, Olpin SE, Blumenthal I, Morris AA. Worthington H, et al. Among authors: olpin se. J Inherit Metab Dis. 2007 Feb;30(1):104. doi: 10.1007/s10545-006-0480-z. Epub 2006 Dec 11. J Inherit Metab Dis. 2007. PMID: 17160614

5

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE. Zeng WQ, et al. Am J Med Genet A. 2006 May 1;140(9):1004-9. doi: 10.1002/ajmg.a.31186. Am J Med Genet A. 2006. PMID: 16575891

6

Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants.

Vijay S, Patterson A, Olpin S, Henderson MJ, Clark S, Day C, Savill G, Walter JH. Vijay S, et al. J Inherit Metab Dis. 2006 Oct;29(5):627-30. doi: 10.1007/s10545-006-0376-y. Epub 2006 Jul 23. J Inherit Metab Dis. 2006. PMID: 16865412

7

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ. Olpin SE, et al. J Inherit Metab Dis. 2003;26(6):543-57. doi: 10.1023/a:1025947930752. J Inherit Metab Dis. 2003. PMID: 14605500

8

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M. Olpin SE, et al. J Inherit Metab Dis. 2005;28(4):533-44. doi: 10.1007/s10545-005-0533-8. J Inherit Metab Dis. 2005. PMID: 15902556

9

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM. Salomons GS, et al. J Inherit Metab Dis. 2007 Feb;30(1):23-8. doi: 10.1007/s10545-006-0514-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186413

10

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S. Knerr I, et al. Among authors: olpin se. J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177572 Free article.

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