Gibson KM - Search Results

1

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.

Knerr I, Weinhold N, Vockley J, Gibson KM. Knerr I, et al. Among authors: gibson km. J Inherit Metab Dis. 2012 Jan;35(1):29-40. doi: 10.1007/s10545-010-9269-1. Epub 2011 Feb 3. J Inherit Metab Dis. 2012. PMID: 21290185 Free PMC article. Review.

2

Screening for defects of branched-chain amino acid metabolism.

Gibson KM, Lee CF, Hoffmann GF. Gibson KM, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S62-7. doi: 10.1007/BF02138780. Eur J Pediatr. 1994. PMID: 7957389 Review.

3

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.

Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J. Gibson KM, et al. Pediatr Res. 2000 Jun;47(6):830-3. doi: 10.1203/00006450-200006000-00025. Pediatr Res. 2000. PMID: 10832746

4

3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign.

Ensenauer R, Müller CB, Schwab KO, Gibson KM, Brandis M, Lehnert W. Ensenauer R, et al. Among authors: gibson km. J Inherit Metab Dis. 2000 Jun;23(4):341-4. doi: 10.1023/a:1005670911799. J Inherit Metab Dis. 2000. PMID: 10896289 No abstract available.

5

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.

Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM. Salomons GS, et al. Among authors: gibson km. J Inherit Metab Dis. 2007 Feb;30(1):23-8. doi: 10.1007/s10545-006-0514-6. Epub 2006 Dec 20. J Inherit Metab Dis. 2007. PMID: 17186413

6

Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.

Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Knerr I, et al. Among authors: gibson km. J Inherit Metab Dis. 2007 Jun;30(3):279-94. doi: 10.1007/s10545-007-0574-2. Epub 2007 Apr 24. J Inherit Metab Dis. 2007. PMID: 17457693

7

Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and Williams syndrome.

Knerr I, Gibson KM, Ganesh J, Bennett MJ, Salomons GS, Jakobs C, Myers SM. Knerr I, et al. Among authors: gibson km. Am J Med Genet B Neuropsychiatr Genet. 2007 Oct 5;144B(7):946-8. doi: 10.1002/ajmg.b.30553. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17471494

8

Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.

Struys EA, Gibson KM, Jakobs C. Struys EA, et al. Among authors: gibson km. J Inherit Metab Dis. 2007 Oct;30(5):690-3. doi: 10.1007/s10545-007-0697-5. Epub 2007 Sep 17. J Inherit Metab Dis. 2007. PMID: 17876720

9

Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.

Knerr I, Gibson KM, Jakobs C, Pearl PL. Knerr I, et al. Among authors: gibson km. CNS Spectr. 2008 Jul;13(7):598-605. doi: 10.1017/s1092852900016874. CNS Spectr. 2008. PMID: 18622364 Free PMC article.

10

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: gibson km. 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

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