Jakobs C - Search Results

1

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

2

4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism.

Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C. Gibson KM, et al. Among authors: jakobs c. Neuropediatrics. 1998 Feb;29(1):14-22. doi: 10.1055/s-2007-973527. Neuropediatrics. 1998. PMID: 9553943 Review.

3

Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid.

Jakobs C, Sweetman L, Nyhan WL, Gruenke L, Craig JC, Wadman SK. Jakobs C, et al. Clin Chim Acta. 1984 Nov 15;143(2):123-33. doi: 10.1016/0009-8981(84)90220-1. Clin Chim Acta. 1984. PMID: 6391739

4

Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism.

Jakobs C, Sweetman L, Nyhan WL, Packman S. Jakobs C, et al. J Inherit Metab Dis. 1984;7(1):15-20. doi: 10.1007/BF01805614. J Inherit Metab Dis. 1984. PMID: 6429435

5

Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia.

Jakobs C, Warner TG, Sweetman L, Nyhan WL. Jakobs C, et al. Pediatr Res. 1984 Aug;18(8):714-8. doi: 10.1203/00006450-198408000-00007. Pediatr Res. 1984. PMID: 6433315

6

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.

7

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. Among authors: jakobs c. J Inherit Metab Dis. 1994;17(6):732-7. doi: 10.1007/BF00712016. J Inherit Metab Dis. 1994. PMID: 7707697

8

Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.

Bennett MJ, Gibson KM, Sherwood WG, Divry P, Rolland MO, Elpeleg ON, Rinaldo P, Jakobs C. Bennett MJ, et al. Among authors: jakobs c. J Inherit Metab Dis. 1993;16(5):831-6. doi: 10.1007/BF00714274. J Inherit Metab Dis. 1993. PMID: 8295397

9

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.

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

578 results

Search Page

Filters