Lemonde HA - Search Results

1

The identification of unusual bile acid metabolites by tandem mass spectrometry: use of low-energy collision-induced dissociation to produce informative spectra.

Lemonde HA, Johnson AW, Clayton PT. Lemonde HA, et al. Rapid Commun Mass Spectrom. 1999;13(12):1159-64. doi: 10.1002/(SICI)1097-0231(19990630)13:12<1159::AID-RCM636>3.0.CO;2-#. Rapid Commun Mass Spectrom. 1999. PMID: 10390861

2

Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.

van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ. van Grunsven EG, et al. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33. doi: 10.1073/pnas.95.5.2128. Proc Natl Acad Sci U S A. 1998. PMID: 9482850 Free PMC article.

3

Bifunctional protein deficiency: complementation within the same group suggesting differential enzyme defects and clues to the underlying basis.

Van Grunsven EG, van Berkel E, Lemonde H, Clayton PT, Wanders RJ. Van Grunsven EG, et al. J Inherit Metab Dis. 1998 Jun;21(3):298-301. doi: 10.1023/a:1005396912015. J Inherit Metab Dis. 1998. PMID: 9686380 No abstract available.

4

Optimisation of bile production during normothermic preservation of porcine livers.

Imber CJ, St Peter SD, de Cenarruzabeitia IL, Lemonde H, Rees M, Butler A, Clayton PT, Friend PJ. Imber CJ, et al. Am J Transplant. 2002 Aug;2(7):593-9. doi: 10.1034/j.1600-6143.2002.20703.x. Am J Transplant. 2002. PMID: 12201359 Free article.

5

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, Clayton PT. Lemonde HA, et al. Gut. 2003 Oct;52(10):1494-9. doi: 10.1136/gut.52.10.1494. Gut. 2003. PMID: 12970144 Free PMC article.

6

A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.

Heywood WE, Mills P, Grunewald S, Worthington V, Jaeken J, Carreno G, Lemonde H, Clayton PT, Mills K. Heywood WE, et al. J Proteome Res. 2013 Jul 5;12(7):3471-9. doi: 10.1021/pr400328g. Epub 2013 Jun 17. J Proteome Res. 2013. PMID: 23742123

7

Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria.

Moat SJ, Schulenburg-Brand D, Lemonde H, Bonham JR, Weykamp CW, Mei JV, Shortland GS, Carling RS. Moat SJ, et al. J Inherit Metab Dis. 2020 Mar;43(2):179-188. doi: 10.1002/jimd.12163. Epub 2019 Oct 2. J Inherit Metab Dis. 2020. PMID: 31433494 Free PMC article. Review.

8

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.

Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjørnstad A, Henneke L, Gärtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW. Alston CL, et al. Am J Hum Genet. 2018 Oct 4;103(4):592-601. doi: 10.1016/j.ajhg.2018.08.013. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245030 Free PMC article.

9

Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.

Carling RS, Hedgethorne K, Chakrapani A, Hall PL, Flynn N, Greenfield T, Moat SJ, Ssali J, Shakespeare L, Taj N, Wu THY, Anderson M, Ghosh A, Lemonde H, Pierre G, Sharrard M, Sreekantam S, Bonham JR. Carling RS, et al. Int J Neonatal Screen. 2024 Mar 13;10(1):24. doi: 10.3390/ijns10010024. Int J Neonatal Screen. 2024. PMID: 38535128 Free PMC article.

10

An infant and mother with severe B₁₂ deficiency: vitamin B₁₂ status assessment should be determined in pregnant women with anaemia.

Sobczyńska-Malefora A, Ramachandran R, Cregeen D, Green E, Bennett P, Harrington DJ, Lemonde HA. Sobczyńska-Malefora A, et al. Among authors: lemonde ha. Eur J Clin Nutr. 2017 Aug;71(8):1013-1015. doi: 10.1038/ejcn.2017.85. Epub 2017 May 24. Eur J Clin Nutr. 2017. PMID: 28537576

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