Gibson KM - Search Results

1

Further evaluation of Vigabatrin therapy in 4-hydroxybutyric aciduria.

Jakobs C, Michael T, Jaeger E, Jaeken J, Gibson KM. Jakobs C, et al. Among authors: gibson km. Eur J Pediatr. 1992 Jun;151(6):466. doi: 10.1007/BF01959366. Eur J Pediatr. 1992. PMID: 1628679 No abstract available.

2

Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency.

Gibson KM, DeVivo DC, Jakobs C. Gibson KM, et al. Lancet. 1989 Nov 4;2(8671):1105-6. doi: 10.1016/s0140-6736(89)91126-4. Lancet. 1989. PMID: 2572834 No abstract available.

3

Prenatal detection of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Jakobs C, Ogier H, Rabier D, Gibson KM. Jakobs C, et al. Among authors: gibson km. Prenat Diagn. 1993 Feb;13(2):150. doi: 10.1002/pd.1970130213. Prenat Diagn. 1993. PMID: 8464836 No abstract available.

4

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. Pediatrics. 1997 Apr;99(4):567-74. doi: 10.1542/peds.99.4.567. Pediatrics. 1997. PMID: 9093300 Free article.

5

4-Hydroxybutyric aciduria: application of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts.

Gibson KM, Lee CF, Chambliss KL, Kamali V, Francois B, Jaeken J, Jakobs C. Gibson KM, et al. Clin Chim Acta. 1991 Feb 15;196(2-3):219-21. doi: 10.1016/0009-8981(91)90076-o. Clin Chim Acta. 1991. PMID: 2029787 No abstract available.

6

The first adult case with 4-hydroxybutyric aciduria.

Jakobs C, Smit LM, Kneer J, Michael T, Gibson KM. Jakobs C, et al. Among authors: gibson km. J Inherit Metab Dis. 1990;13(3):341-4. doi: 10.1007/BF01799390. J Inherit Metab Dis. 1990. PMID: 2122097 No abstract available.

7

Inherited disorders of GABA metabolism.

Jakobs C, Jaeken J, Gibson KM. Jakobs C, et al. Among authors: gibson km. J Inherit Metab Dis. 1993;16(4):704-15. doi: 10.1007/BF00711902. J Inherit Metab Dis. 1993. PMID: 8412016 Review.

8

Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency.

Gibson KM, Jakobs C, Ogier H, Hagenfeldt L, Eeg-Olofsson KE, Eeg-Olofsson O, Aksu F, Weber HP, Rossier E, Vollmer B, et al. Gibson KM, et al. J Inherit Metab Dis. 1995;18(2):143-6. doi: 10.1007/BF00711750. J Inherit Metab Dis. 1995. PMID: 7564230 No abstract available.

9

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: gibson km. Am J Hum Genet. 1998 Aug;63(2):399-408. doi: 10.1086/301964. Am J Hum Genet. 1998. PMID: 9683595 Free PMC article.

10

Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

Gibson KM, Sweetman L, Kozich V, Pijackova A, Tscharre A, Cortez A, Eyskens F, Jakobs C, Duran M, Poll-The BT. Gibson KM, et al. J Inherit Metab Dis. 1998 Jun;21(3):255-61. doi: 10.1023/a:1005368106563. J Inherit Metab Dis. 1998. PMID: 9686370 No abstract available.

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