Kahler S - Search Results

1

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. Arnold GL, et al. Among authors: kahler s. Mol Genet Metab. 2008 Apr;93(4):363-70. doi: 10.1016/j.ymgme.2007.11.002. Epub 2007 Dec 21. Mol Genet Metab. 2008. PMID: 18155630

2

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Shen JJ, Matern D, Millington DS, Hillman S, Feezor MD, Bennett MJ, Qumsiyeh M, Kahler SG, Chen YT, Van Hove JL. Shen JJ, et al. Among authors: kahler sg. J Inherit Metab Dis. 2000 Feb;23(1):27-44. doi: 10.1023/a:1005694712583. J Inherit Metab Dis. 2000. PMID: 10682306

3

Parenteral nutrition in propionic and methylmalonic acidemia.

Kahler SG, Millington DS, Cederbaum SD, Vargas J, Bond LD, Maltby DA, Gale DS, Roe CR. Kahler SG, et al. J Pediatr. 1989 Aug;115(2):235-41. doi: 10.1016/s0022-3476(89)80071-x. J Pediatr. 1989. PMID: 2502611

4

3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.

van Hove JL, Rutledge SL, Nada MA, Kahler SG, Millington DS. van Hove JL, et al. Among authors: kahler sg. J Inherit Metab Dis. 1995;18(5):592-601. doi: 10.1007/BF02436004. J Inherit Metab Dis. 1995. PMID: 8598640

5

45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases.

Pettenati MJ, Wheeler M, Bartlett DJ, Subrt I, Rao N, Kroovand RL, Burton BK, Kahler S, Park HK, Cosper P, et al. Pettenati MJ, et al. Among authors: kahler s. Am J Med Genet. 1991 Apr 1;39(1):42-7. doi: 10.1002/ajmg.1320390111. Am J Med Genet. 1991. PMID: 1867264

6

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Van Hove JL, Zhang W, Kahler SG, Roe CR, Chen YT, Terada N, Chace DH, Iafolla AK, Ding JH, Millington DS. Van Hove JL, et al. Among authors: kahler sg. Am J Hum Genet. 1993 May;52(5):958-66. Am J Hum Genet. 1993. PMID: 8488845 Free PMC article.

7

Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency.

Van Hove JL, Kahler SG, Feezor MD, Ramakrishna JP, Hart P, Treem WR, Shen JJ, Matern D, Millington DS. Van Hove JL, et al. Among authors: kahler sg. J Inherit Metab Dis. 2000 Sep;23(6):571-82. doi: 10.1023/a:1005673828469. J Inherit Metab Dis. 2000. PMID: 11032332

8

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Van Hove JL, Kishnani P, Muenzer J, Wenstrup RJ, Summar ML, Brummond MR, Lachiewicz AM, Millington DS, Kahler SG. Van Hove JL, et al. Among authors: kahler sg. Am J Med Genet. 1995 Dec 4;59(4):444-53. doi: 10.1002/ajmg.1320590410. Am J Med Genet. 1995. PMID: 8585564

9

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL. Ahmad A, et al. Among authors: kahler sg. Am J Med Genet. 1999 Dec 3;87(4):331-8. doi: 10.1002/(sici)1096-8628(19991203)87:4<331::aid-ajmg10>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10588840

10

Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.

Van Hove JL, Kahler SG, Millington DS, Roe DS, Chace DH, Heales SJ, Roe CR. Van Hove JL, et al. Among authors: kahler sg. Pediatr Res. 1994 Jan;35(1):96-101. doi: 10.1203/00006450-199401000-00020. Pediatr Res. 1994. PMID: 8134205

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