Jakobs C - 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: jakobs c. Pediatr Neurol. 1994 Feb;10(1):49-53. doi: 10.1016/0887-8994(94)90067-1. Pediatr Neurol. 1994. PMID: 7515241

2

Multiple syndromes of 3-methylglutaconic aciduria.

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

3

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. Among authors: jakobs c. J Inherit Metab Dis. 1993;16(3):497-500. doi: 10.1007/BF00711664. J Inherit Metab Dis. 1993. PMID: 7609436 No abstract available.

4

D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity?

van der Knaap MS, Jakobs C, Hoffmann GF, Nyhan WL, Renier WO, Smeitink JA, Catsman-Berrevoets CE, Hjalmarson O, Vallance H, Sugita K, Bowe CM, Herrin JT, Craigen WJ, Buist NR, Brookfield DS, Chalmers RA. van der Knaap MS, et al. Among authors: jakobs c. Ann Neurol. 1999 Jan;45(1):111-9. doi: 10.1002/1531-8249(199901)45:1<111::aid-art17>3.0.co;2-n. Ann Neurol. 1999. PMID: 9894884

5

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. Among authors: jakobs c. Pediatr Res. 2000 Jun;47(6):830-3. doi: 10.1203/00006450-200006000-00025. Pediatr Res. 2000. PMID: 10832746

6

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. Among authors: jakobs c. Pediatr Res. 1993 Sep;34(3):277-80. doi: 10.1203/00006450-199309000-00007. Pediatr Res. 1993. PMID: 8134166

7

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. Among authors: jakobs c. Biomed Environ Mass Spectrom. 1990 Feb;19(2):89-93. doi: 10.1002/bms.1200190207. Biomed Environ Mass Spectrom. 1990. PMID: 2407302

8

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. Among authors: jakobs c. J Pediatr. 1992 Dec;121(6):940-2. doi: 10.1016/s0022-3476(05)80348-8. J Pediatr. 1992. PMID: 1447663

9

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Iafolla AK, Matern D, Brouwer OF, Finkelstein J, Aksu F, Weber HP, Bakkeren JA, Gabreels FJ, Bluestone D, Barron TF, Beauvais P, Rabier D, Santos C, Lehnert W, et al. Gibson KM, et al. Among authors: jakobs c. Pediatrics. 1997 Apr;99(4):567-74. doi: 10.1542/peds.99.4.567. Pediatrics. 1997. PMID: 9093300 Free article.

10

Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Chambliss KL, Hinson DD, Trettel F, Malaspina P, Novelletto A, Jakobs C, Gibson KM. Chambliss KL, et al. Among authors: jakobs c. Am J Hum Genet. 1998 Aug;63(2):399-408. doi: 10.1086/301964. Am J Hum Genet. 1998. PMID: 9683595 Free PMC article.

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