Santer R - Search Results

1

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U. Spiekerkoetter U, et al. Among authors: santer r. J Inherit Metab Dis. 2009 Aug;32(4):488-97. doi: 10.1007/s10545-009-1125-9. Epub 2009 Apr 29. J Inherit Metab Dis. 2009. PMID: 19399638

2

Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.

Schmidt-Sommerfeld E, Penn D, Duran M, Rinaldo P, Bennett MJ, Santer R, Stanley CA. Schmidt-Sommerfeld E, et al. Among authors: santer r. Prog Clin Biol Res. 1992;375:355-62. Prog Clin Biol Res. 1992. PMID: 1438381

3

Decreased activity of respiratory-chain enzymes in glutaric aciduria type II.

Santer R, Claass A, Krawinkel M, Schaub J, Ruitenbeek W. Santer R, et al. J Inherit Metab Dis. 1995;18(1):75-6. doi: 10.1007/BF00711377. J Inherit Metab Dis. 1995. PMID: 7623447 No abstract available.

4

Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease.

Krawinkel MB, Oldigs HD, Santer R, Lehnert W, Wendel U, Schaub J. Krawinkel MB, et al. Among authors: santer r. J Inherit Metab Dis. 1994;17(5):636-7. doi: 10.1007/BF00711609. J Inherit Metab Dis. 1994. PMID: 7837777 No abstract available.

5

Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.

Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J. Müller D, et al. Among authors: santer r. J Inherit Metab Dis. 1997 Aug;20(4):607-8. doi: 10.1023/a:1005375629820. J Inherit Metab Dis. 1997. PMID: 9266402 No abstract available.

6

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R. Santer R, et al. Hum Mutat. 2000 Aug;16(2):177. doi: 10.1002/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8. Hum Mutat. 2000. PMID: 10923042

7

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

Santer R, Kinner M, Passarge M, Superti-Furga A, Mayatepek E, Meissner T, Schneppenheim R, Schaub J. Santer R, et al. Hum Genet. 2001 Jan;108(1):66-71. doi: 10.1007/s004390000432. Hum Genet. 2001. PMID: 11214910

8

Hyperinsulinism in syndromal disorders.

Meissner T, Rabl W, Mohnike K, Scholl S, Santer R, Mayatepek E. Meissner T, et al. Among authors: santer r. Acta Paediatr. 2001 Aug;90(8):856-9. Acta Paediatr. 2001. PMID: 11529530

9

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

Lässker U, Zschocke J, Blau N, Santer R. Lässker U, et al. Among authors: santer r. J Inherit Metab Dis. 2002 Feb;25(1):65-70. doi: 10.1023/a:1015194002487. J Inherit Metab Dis. 2002. PMID: 11999982 Review.

10

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.

Meissner T, Mayatepek E, Kinner M, Santer R. Meissner T, et al. Among authors: santer r. Clin Chim Acta. 2004 Mar;341(1-2):23-6. doi: 10.1016/j.cccn.2003.10.023. Clin Chim Acta. 2004. PMID: 14967154

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

322 results

Search Page

Filters