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662 results

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Page 1
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
Hörster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gökcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grünewald S, Baumgartner MR, Kölker S. Hörster F, et al. Among authors: lindner m. J Inherit Metab Dis. 2009 Oct;32(5):630. doi: 10.1007/s10545-009-1189-6. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642010
Myotonic dystrophy associated with VACTERL? A case report.
Kölker S, Degen I, Koch MC, Lindner M, Haas D, Hoffmann GF. Kölker S, et al. Among authors: lindner m. Neuropediatrics. 2001 Feb;32(1):53-4. doi: 10.1055/s-2001-12220. Neuropediatrics. 2001. PMID: 11318010 No abstract available.
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.
Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Okun JG, et al. Among authors: lindner m. Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8. doi: 10.1016/s1388-1981(02)00296-2. Biochim Biophys Acta. 2002. PMID: 12385891
Emergency management of inherited metabolic diseases.
Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF. Prietsch V, et al. Among authors: lindner m. J Inherit Metab Dis. 2002 Nov;25(7):531-46. doi: 10.1023/a:1022040422590. J Inherit Metab Dis. 2002. PMID: 12638937 Review.
Neonatal screening for glutaryl-CoA dehydrogenase deficiency.
Lindner M, Kölker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF. Lindner M, et al. J Inherit Metab Dis. 2004;27(6):851-9. doi: 10.1023/B:BOLI.0000045769.96657.af. J Inherit Metab Dis. 2004. PMID: 15505392 Review.
Emergency treatment in glutaryl-CoA dehydrogenase deficiency.
Kölker S, Greenberg CR, Lindner M, Müller E, Naughten ER, Hoffmann GF. Kölker S, et al. Among authors: lindner m. J Inherit Metab Dis. 2004;27(6):893-902. doi: 10.1023/B:BOLI.0000045774.51260.ea. J Inherit Metab Dis. 2004. PMID: 15505397 Review.
Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.
Schulze-Bergkamen A, Okun JG, Spiekerkötter U, Lindner M, Haas D, Kohlmüller D, Mayatepek E, Schulze-Bergkamen H, Greenberg CR, Zschocke J, Hoffmann GF, Kölker S. Schulze-Bergkamen A, et al. Among authors: lindner m. Pediatr Res. 2005 Nov;58(5):873-80. doi: 10.1203/01.PDR.0000181378.98593.3E. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183823
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg.
Lindner M, Abdoh G, Fang-Hoffmann J, Shabeck N, Al-Sayrafi M, Al-Janahi M, Ho S, Abdelrahman MO, Ben-Omran T, Bener A, Schulze A, Al-Rifai H, Al-Thani G, Hoffmann GF. Lindner M, et al. J Inherit Metab Dis. 2007 Aug;30(4):522-9. doi: 10.1007/s10545-007-0553-7. Epub 2007 May 12. J Inherit Metab Dis. 2007. PMID: 17510756
662 results