Sperl W - Search Results

1

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.

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

Propionic acidemia: neonatal versus selective metabolic screening.

Grünert SC, 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, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO. Grünert SC, et al. Among authors: sperl w. J Inherit Metab Dis. 2012 Jan;35(1):41-9. doi: 10.1007/s10545-011-9419-0. Epub 2011 Dec 2. J Inherit Metab Dis. 2012. PMID: 22134541

4

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

5

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

6

Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.

Sass JO, Kishikawa M, Puttinger R, Reiss J, Erwa W, Shimizu A, Sperl W. Sass JO, et al. Among authors: sperl w. J Inherit Metab Dis. 2003;26(1):80-2. doi: 10.1023/a:1024091900547. J Inherit Metab Dis. 2003. PMID: 12872846 No abstract available.

7

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

8

Congenital cataract and familial brachydactyly in carbohydrate-deficient glycoprotein syndrome.

Skladal D, Sperl W, Henry H, Bachmann C. Skladal D, et al. Among authors: sperl w. J Inherit Metab Dis. 1996;19(2):251-2. doi: 10.1007/BF01799442. J Inherit Metab Dis. 1996. PMID: 8739978 No abstract available.

9

S-homocysteinylation of transthyretin is detected in plasma and serum of humans with different types of hyperhomocysteinemia.

Sass JO, Nakanishi T, Sato T, Sperl W, Shimizu A. Sass JO, et al. Among authors: sperl w. Biochem Biophys Res Commun. 2003 Oct 10;310(1):242-6. doi: 10.1016/j.bbrc.2003.08.089. Biochem Biophys Res Commun. 2003. PMID: 14511677

10

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

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