Manning N - Search Results

1

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Hartill VL, Tysoe C, Manning N, Dobbie A, Santra S, Walter J, Caswell R, Koster J, Waterham H, Hobson E. Hartill VL, et al. Among authors: manning n. Am J Med Genet A. 2014 Apr;164A(4):907-14. doi: 10.1002/ajmg.a.36368. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459067

2

Prenatal diagnosis of Canavan disease--problems and dilemmas.

Besley GT, Elpeleg ON, Shaag A, Manning NJ, Jakobs C, Walter JH. Besley GT, et al. Among authors: manning nj. J Inherit Metab Dis. 1999 May;22(3):263-6. doi: 10.1023/a:1005534105933. J Inherit Metab Dis. 1999. PMID: 10384383 No abstract available.

3

Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.

Lam WW, Kirk J, Manning N, Reardon W, Kelley RI, Fitzpatrick D. Lam WW, et al. Among authors: manning n. Eur J Med Genet. 2006 Mar-Apr;49(2):195-9. doi: 10.1016/j.ejmg.2005.05.011. Epub 2005 Jun 22. Eur J Med Genet. 2006. PMID: 16530716

4

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. Among authors: manning nj. J Inherit Metab Dis. 2002 Oct;25(6):477-82. doi: 10.1023/a:1021251202287. J Inherit Metab Dis. 2002. PMID: 12555940

5

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. Among authors: manning n. 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

6

Prenatal diagnosis of a defect in medium-chain fatty acid oxidation.

Pollitt RJ, Manning NJ, Olpin SE, Young ID. Pollitt RJ, et al. Among authors: manning nj. J Inherit Metab Dis. 1994;17(3):279-82. doi: 10.1007/BF00711807. J Inherit Metab Dis. 1994. PMID: 7807933 No abstract available.

7

Carnitine-acylcarnitine translocase deficiency--a mild phenotype.

Olpin SE, Bonham JR, Downing M, Manning NJ, Pollitt RJ, Sharrard MJ, Tanner MS. Olpin SE, et al. Among authors: manning nj. J Inherit Metab Dis. 1997 Sep;20(5):714-5. doi: 10.1023/a:1005343013873. J Inherit Metab Dis. 1997. PMID: 9323572 No abstract available.

8

Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.

Manning NJ, Olpin SE, Pollitt RJ, Downing M, Heeley AF, Young ID. Manning NJ, et al. J Inherit Metab Dis. 2000 Nov;23(7):757-9. doi: 10.1023/a:1005667906032. J Inherit Metab Dis. 2000. PMID: 11117439 No abstract available.

9

6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.

Cromby CH, Manning NJ, Pollitt RJ, Powell S, Bennett MJ. Cromby CH, et al. Among authors: manning nj. J Inherit Metab Dis. 1994;17(1):81-4. doi: 10.1007/BF00735400. J Inherit Metab Dis. 1994. PMID: 7914250

10

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. Among authors: manning nj. J Inherit Metab Dis. 2003;26(6):543-57. doi: 10.1023/a:1025947930752. J Inherit Metab Dis. 2003. PMID: 14605500

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