Gibson KM - Search Results

1

D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.

Craigen WJ, Jakobs C, Sekul EA, Levy ML, Gibson KM, Butler IJ, Herman GE. Craigen WJ, et al. Among authors: gibson km. Pediatr Neurol. 1994 Feb;10(1):49-53. doi: 10.1016/0887-8994(94)90067-1. Pediatr Neurol. 1994. PMID: 7515241

2

D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

Gibson KM, Craigen W, Herman GE, Jakobs C. Gibson KM, et al. J Inherit Metab Dis. 1993;16(3):497-500. doi: 10.1007/BF00711664. J Inherit Metab Dis. 1993. PMID: 7609436 No abstract available.

3

Multiple syndromes of 3-methylglutaconic aciduria.

Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI. Gibson KM, et al. Pediatr Neurol. 1993 Mar-Apr;9(2):120-3. doi: 10.1016/0887-8994(93)90046-f. Pediatr Neurol. 1993. PMID: 8499040 Review.

4

Stable isotope dilution analysis of 4-hydroxybutyric acid: an accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria.

Gibson KM, Aramaki S, Sweetman L, Nyhan WL, DeVivo DC, Hodson AK, Jakobs C. Gibson KM, et al. Biomed Environ Mass Spectrom. 1990 Feb;19(2):89-93. doi: 10.1002/bms.1200190207. Biomed Environ Mass Spectrom. 1990. PMID: 2407302

5

Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.

Gibson KM, ten Brink HJ, Schor DS, Kok RM, Bootsma AH, Hoffmann GF, Jakobs C. Gibson KM, et al. Pediatr Res. 1993 Sep;34(3):277-80. doi: 10.1203/00006450-199309000-00007. Pediatr Res. 1993. PMID: 8134166

6

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

7

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.

Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz FK. Gibson KM, et al. J Pediatr. 1992 Dec;121(6):940-2. doi: 10.1016/s0022-3476(05)80348-8. J Pediatr. 1992. PMID: 1447663

8

Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria).

Gibson KM, Gupta M, Pearl PL, Tuchman M, Vezina LG, Snead OC 3rd, Smit LM, Jakobs C. Gibson KM, et al. Biol Psychiatry. 2003 Oct 1;54(7):763-8. doi: 10.1016/s0006-3223(03)00113-6. Biol Psychiatry. 2003. PMID: 14512218

9

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Knerr I, et al. Among authors: gibson km. Pediatr Neurol. 2010 Apr;42(4):255-8. doi: 10.1016/j.pediatrneurol.2009.11.011. Pediatr Neurol. 2010. PMID: 20304328 Free PMC article.

10

Pre- and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assays.

Gibson KM, Baumann C, Ogier H, Rossier E, Vollmer B, Jakobs C. Gibson KM, et al. J Inherit Metab Dis. 1994;17(6):732-7. doi: 10.1007/BF00712016. J Inherit Metab Dis. 1994. PMID: 7707697

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