Chalmers RA - Search Results

1

Molecular analysis and prenatal diagnosis of human fumarase deficiency.

Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE. Coughlin EM, et al. Among authors: chalmers ra. Mol Genet Metab. 1998 Apr;63(4):254-62. doi: 10.1006/mgme.1998.2684. Mol Genet Metab. 1998. PMID: 9635293

2

A fourth case of fumarase deficiency.

Walker V, Mills GA, Hall MA, Millward-Sadler GH, English NR, Chalmers RA. Walker V, et al. Among authors: chalmers ra. J Inherit Metab Dis. 1989;12(3):331-2. doi: 10.1007/BF01799229. J Inherit Metab Dis. 1989. PMID: 2515378 No abstract available.

3

Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency.

Hsu BY, Iacobazzi V, Wang Z, Harvie H, Chalmers RA, Saudubray JM, Palmieri F, Ganguly A, Stanley CA. Hsu BY, et al. Among authors: chalmers ra. Mol Genet Metab. 2001 Sep-Oct;74(1-2):248-55. doi: 10.1006/mgme.2001.3235. Mol Genet Metab. 2001. PMID: 11592821

4

Riboflavin-responsive glutaryl CoA dehydrogenase deficiency.

Chalmers RA, Bain MD, Zschocke J. Chalmers RA, et al. Mol Genet Metab. 2006 May;88(1):29-37. doi: 10.1016/j.ymgme.2005.11.007. Mol Genet Metab. 2006. PMID: 16377226

5

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.

Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Kölker S, et al. Among authors: chalmers ra. Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26. Pediatr Res. 2006. PMID: 16641220

6

Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing.

Petrova-Benedict R, Robinson BH, Stacey TE, Mistry J, Chalmers RA. Petrova-Benedict R, et al. Among authors: chalmers ra. Am J Hum Genet. 1987 Mar;40(3):257-66. Am J Hum Genet. 1987. PMID: 3578275 Free PMC article.

7

Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children.

Chalmers RA, Bain MD, Michelakakis H, Zschocke J, Iles RA. Chalmers RA, et al. J Inherit Metab Dis. 2006 Feb;29(1):162-72. doi: 10.1007/s10545-006-0158-6. J Inherit Metab Dis. 2006. PMID: 16601883 Clinical Trial.

8

Glutaric aciduria type I: prenatal exclusion using GC-MS analysis of amniotic fluid and enzymology with oxidation of [6-14C]lysine.

Chalmers RA, Cheng KN, English NR, Jones MA, Savage W. Chalmers RA, et al. J Inherit Metab Dis. 1989;12(3):335-6. doi: 10.1007/BF01799231. J Inherit Metab Dis. 1989. PMID: 2515380 No abstract available.

9

Measurement of L-carnitine and acylcarnitines in body fluids and tissues in children and in adults.

de Sousa C, English NR, Stacey TE, Chalmers RA. de Sousa C, et al. Among authors: chalmers ra. Clin Chim Acta. 1990 Mar 15;187(3):317-28. doi: 10.1016/0009-8981(90)90117-b. Clin Chim Acta. 1990. PMID: 2323071

10

Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death.

Chalmers RA, Stanley CA, English N, Wigglesworth JS. Chalmers RA, et al. J Pediatr. 1997 Aug;131(2):220-5. doi: 10.1016/s0022-3476(97)70157-4. J Pediatr. 1997. PMID: 9290607

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

185 results

Search Page