Röschinger W - Search Results

1

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.

Müller-Felber W, Blaschek A, Schwartz O, Gläser D, Nennstiel U, Brockow I, Wirth B, Burggraf S, Röschinger W, Becker M, Durner J, Eggermann K, Kölbel H, Müller C, Hannibal I, Olgemöller B, Schara U, von Moers A, Trollmann R, Johannssen J, Ziegler A, Cirak S, Hahn A, von der Hagen M, Weiss C, Schreiber G, Flotats-Bastardas M, Hartmann H, Illsinger S, Pechmann A, Horber V, Kirschner J, Köhler C, Winter B, Friese J, Vill K. Müller-Felber W, et al. Among authors: roschinger w. J Neuromuscul Dis. 2023;10(1):55-65. doi: 10.3233/JND-221577. J Neuromuscul Dis. 2023. PMID: 36463459 Free PMC article.

2

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Dudesek A, Röschinger W, Muntau AC, Seidel J, Leupold D, Thöny B, Blau N. Dudesek A, et al. Among authors: roschinger w. Eur J Pediatr. 2001 May;160(5):267-76. doi: 10.1007/s004310000722. Eur J Pediatr. 2001. PMID: 11388593

3

T-cell-depleted peripheral blood stem cell transplantation for alpha-mannosidosis.

Albert MH, Schuster F, Peters C, Schulze S, Pontz BF, Muntau AC, Röschinger W, Stachel DK, Enders A, Haas RJ, Schmid I. Albert MH, et al. Among authors: roschinger w. Bone Marrow Transplant. 2003 Aug;32(4):443-6. doi: 10.1038/sj.bmt.1704148. Bone Marrow Transplant. 2003. PMID: 12900784

4

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Häberle J, Andresen BS, Mégarbané A, Lehnert W, Zschocke J. Sass JO, et al. Among authors: roschinger w. Mol Genet Metab. 2008 Jan;93(1):30-5. doi: 10.1016/j.ymgme.2007.09.002. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17945527

5

Characteristics of L-ornithine: 2-oxoacid aminotransferase and potential prenatal diagnosis of gyrate atrophy of the choroid and retina by first trimester chorionic villus sampling.

Roschinger W, Endres W, Shin YS. Roschinger W, et al. Clin Chim Acta. 2000 Jun;296(1-2):91-100. doi: 10.1016/s0009-8981(00)00222-9. Clin Chim Acta. 2000. PMID: 10807973

6

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase.

Röschinger W, Millington DS, Gage DA, Huang ZH, Iwamoto T, Yano S, Packman S, Johnston K, Berry SA, Sweetman L. Röschinger W, et al. Clin Chim Acta. 1995 Aug 31;240(1):35-51. doi: 10.1016/0009-8981(95)06126-2. Clin Chim Acta. 1995. PMID: 8582058 No abstract available.

7

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle.

Röschinger W, Muntau AC, Duran M, Dorland L, IJlst L, Wanders RJ, Roscher AA. Röschinger W, et al. Clin Chim Acta. 2000 Aug;298(1-2):55-68. doi: 10.1016/s0009-8981(00)00268-0. Clin Chim Acta. 2000. PMID: 10876004

8

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B. Dionisi-Vici C, et al. Among authors: roschinger w. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z. J Inherit Metab Dis. 2006. PMID: 16763906 Review.

9

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: roschinger w. 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

10

Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.

Fingerhut R, Ensenauer R, Röschinger W, Arnecke R, Olgemöller B, Roscher AA. Fingerhut R, et al. Among authors: roschinger w. Anal Chem. 2009 May 1;81(9):3571-5. doi: 10.1021/ac8022235. Anal Chem. 2009. PMID: 19323528

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