Lamhonwah AM - Search Results

1

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Among authors: lamhonwah am. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510

2

Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants.

Zolkipli Z, Pedersen CB, Lamhonwah AM, Gregersen N, Tein I. Zolkipli Z, et al. Among authors: lamhonwah am. PLoS One. 2011 Apr 1;6(4):e17534. doi: 10.1371/journal.pone.0017534. PLoS One. 2011. PMID: 21483766 Free PMC article.

3

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.

Verbeeten KC, Lamhonwah AM, Bulman D, Faghfoury H, Chakraborty P, Tein I, Geraghty MT. Verbeeten KC, et al. Among authors: lamhonwah am. Mol Genet Metab. 2020 Mar;129(3):213-218. doi: 10.1016/j.ymgme.2019.12.006. Epub 2019 Dec 10. Mol Genet Metab. 2020. PMID: 31864849

4

Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene.

Lamhonwah AM, Tein I. Lamhonwah AM, et al. Biochem Biophys Res Commun. 1998 Nov 18;252(2):396-401. doi: 10.1006/bbrc.1998.9679. Biochem Biophys Res Commun. 1998. PMID: 9826541

5

GFP-Human high-affinity carnitine transporter OCTN2 protein: subcellular localization and functional restoration of carnitine uptake in mutant cell lines with the carnitine transporter defect.

Lamhonwah AM, Tein I. Lamhonwah AM, et al. Biochem Biophys Res Commun. 1999 Nov 2;264(3):909-14. doi: 10.1006/bbrc.1999.1560. Biochem Biophys Res Commun. 1999. PMID: 10544029

6

Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondria.

Lamhonwah AM, Tein I. Lamhonwah AM, et al. Biochem Biophys Res Commun. 2006 Jul 14;345(4):1315-25. doi: 10.1016/j.bbrc.2006.05.026. Epub 2006 May 12. Biochem Biophys Res Commun. 2006. PMID: 16729965

7

Expression of the organic cation/carnitine transporter family (Octn1,-2 and-3) in mdx muscle and heart: Implications for early carnitine therapy in Duchenne muscular dystrophy to improve cellular carnitine homeostasis.

Lamhonwah AM, Tein I. Lamhonwah AM, et al. Clin Chim Acta. 2020 Jun;505:92-97. doi: 10.1016/j.cca.2020.02.015. Epub 2020 Feb 15. Clin Chim Acta. 2020. PMID: 32070725

8

The mdx mouse as a model for carnitine deficiency in the pathogenesis of Duchenne muscular dystrophy.

Zolkipli Z, Mai L, Lamhonwah AM, Tein I. Zolkipli Z, et al. Among authors: lamhonwah am. Muscle Nerve. 2012 Nov;46(5):767-72. doi: 10.1002/mus.23368. Muscle Nerve. 2012. PMID: 23055315

9

Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance.

Nabavi Nouri M, Lamhonwah AM, Tein I. Nabavi Nouri M, et al. Among authors: lamhonwah am. Clin Case Rep. 2018 Jan 28;6(3):499-501. doi: 10.1002/ccr3.1233. eCollection 2018 Mar. Clin Case Rep. 2018. PMID: 29531726 Free PMC article.

10

Expression patterns of the organic cation/carnitine transporter family in adult murine brain.

Lamhonwah AM, Hawkins CE, Tam C, Wong J, Mai L, Tein I. Lamhonwah AM, et al. Brain Dev. 2008 Jan;30(1):31-42. doi: 10.1016/j.braindev.2007.05.005. Epub 2007 Jun 18. Brain Dev. 2008. PMID: 17576045

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