Sperl W - Search Results

1

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

Muro S, Rodríguez-Pombo P, Pérez B, Pérez-Cerdá C, Desviat LR, Sperl W, Skladal D, Sass JO, Ugarte M. Muro S, et al. Among authors: sperl w. Hum Mutat. 1999;14(1):89-90. doi: 10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5. Hum Mutat. 1999. PMID: 10447268

2

Propionic acidemia revisited: a workshop report.

Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W. Sass JO, et al. Among authors: sperl w. Clin Pediatr (Phila). 2004 Nov-Dec;43(9):837-43. doi: 10.1177/000992280404300908. Clin Pediatr (Phila). 2004. PMID: 15583780

3

Odd-numbered long-chain fatty acids in propionic acidaemia.

Sperl W, Murr C, Skladal D, Sass JO, Suormala T, Baumgartner R, Wendel U. Sperl W, et al. Eur J Pediatr. 2000 Jan-Feb;159(1-2):54-8. doi: 10.1007/s004310050010. Eur J Pediatr. 2000. PMID: 10653330

4

Mutation analysis in 54 propionic acidemia patients.

Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO. Kraus JP, et al. Among authors: sperl w. J Inherit Metab Dis. 2012 Jan;35(1):51-63. doi: 10.1007/s10545-011-9399-0. Epub 2011 Oct 27. J Inherit Metab Dis. 2012. PMID: 22033733

5

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.

Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D. Baumgartner D, et al. Among authors: sperl w. J Pediatr. 2007 Feb;150(2):192-7, 197.e1. doi: 10.1016/j.jpeds.2006.11.043. J Pediatr. 2007. PMID: 17236900

6

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.

Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ. Ofman R, et al. Among authors: sperl w. Am J Hum Genet. 2003 May;72(5):1300-7. doi: 10.1086/375116. Epub 2003 Apr 14. Am J Hum Genet. 2003. PMID: 12696021 Free PMC article.

7

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT. Sjarif DR, et al. Among authors: sperl w. Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172. Eur J Hum Genet. 2004. PMID: 15026783

8

Parenteral administration of amino acids in disorders of branched-chain amino acid metabolism.

Sperl W, Skladal D, Endres W, Speer G, Groke K. Sperl W, et al. J Inherit Metab Dis. 1994;17(6):753-4. doi: 10.1007/BF00712021. J Inherit Metab Dis. 1994. PMID: 7707702 No abstract available.

9

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.

Sass JO, Forstner R, Sperl W. Sass JO, et al. Among authors: sperl w. Brain Dev. 2004 Jan;26(1):12-4. doi: 10.1016/s0387-7604(03)00071-8. Brain Dev. 2004. PMID: 14729408

10

Treatment of neonatal hyperammonaemia.

Sass JO, Sperl W, Bachmann C. Sass JO, et al. Among authors: sperl w. Lancet. 2001 Nov 17;358(9294):1727-8. doi: 10.1016/s0140-6736(01)06746-0. Lancet. 2001. PMID: 11728574 No abstract available.

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