He M - Search Results

1

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Bonilla Guerrero R, et al. Among authors: he m. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16. J Inherit Metab Dis. 2008. PMID: 19089597

2

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Matern D, et al. Among authors: he m. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.

3

A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase.

He M, Burghardt TP, Vockley J. He M, et al. J Biol Chem. 2003 Sep 26;278(39):37974-86. doi: 10.1074/jbc.M306882200. Epub 2003 Jul 10. J Biol Chem. 2003. PMID: 12855692 Free article.

4

Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.

Ensenauer R, He M, Willard JM, Goetzman ES, Corydon TJ, Vandahl BB, Mohsen AW, Isaya G, Vockley J. Ensenauer R, et al. Among authors: he m. J Biol Chem. 2005 Sep 16;280(37):32309-16. doi: 10.1074/jbc.M504460200. Epub 2005 Jul 14. J Biol Chem. 2005. PMID: 16020546 Free article.

5

Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism.

Goetzman ES, He M, Nguyen TV, Vockley J. Goetzman ES, et al. Among authors: he m. Mol Genet Metab. 2006 Mar;87(3):233-42. doi: 10.1016/j.ymgme.2005.09.027. Epub 2005 Dec 22. Mol Genet Metab. 2006. PMID: 16376132

6

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Oglesbee D, et al. Among authors: he m. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6. Genet Med. 2007. PMID: 17304052

7

A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.

He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J. He M, et al. Am J Hum Genet. 2007 Jul;81(1):87-103. doi: 10.1086/519219. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17564966 Free PMC article.

8

Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase.

McAndrew RP, Wang Y, Mohsen AW, He M, Vockley J, Kim JJ. McAndrew RP, et al. Among authors: he m. J Biol Chem. 2008 Apr 4;283(14):9435-43. doi: 10.1074/jbc.M709135200. Epub 2008 Jan 28. J Biol Chem. 2008. PMID: 18227065 Free PMC article.

9

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM. Wolfe LA, et al. Among authors: he m. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(0 3):S481-7. doi: 10.1007/s10545-010-9246-8. Epub 2010 Nov 19. J Inherit Metab Dis. 2010. PMID: 21088898 Free PMC article.

10

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J. He M, et al. J Clin Invest. 2011 Mar;121(3):976-84. doi: 10.1172/JCI42650. J Clin Invest. 2011. PMID: 21285510 Free PMC article.

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