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Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.
Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P. Al-Dirbashi OY, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2011 Feb;34(1):173-80. doi: 10.1007/s10545-010-9223-2. Epub 2010 Oct 27. J Inherit Metab Dis. 2011. PMID: 20978942
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy N, Mühlhausen C, Maier EM, Ballhausen D, Baumgartner MR, Beblo S, Burgard P, Chapman KA, Dobbelaere D, Heringer-Seifert J, Fleissner S, Grohmann-Held K, Hahn G, Harting I, Hoffmann GF, Jochum F, Karall D, Konstantopoulous V, Krawinkel MB, Lindner M, Märtner EMC, Nuoffer JM, Okun JG, Plecko B, Posset R, Sahm K, Scholl-Bürgi S, Thimm E, Walter M, Williams M, Vom Dahl S, Ziagaki A, Zschocke J, Kölker S. Boy N, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2023 May;46(3):482-519. doi: 10.1002/jimd.12566. Epub 2022 Nov 17. J Inherit Metab Dis. 2023. PMID: 36221165 Free article.
Emergency management of inherited metabolic diseases.
Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF. Prietsch V, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2002 Nov;25(7):531-46. doi: 10.1023/a:1022040422590. J Inherit Metab Dis. 2002. PMID: 12638937 Review.
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.
Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J. Hoffmann GF, et al. J Inherit Metab Dis. 2007 Feb;30(1):96-9. doi: 10.1007/s10545-006-0508-4. Epub 2006 Dec 23. J Inherit Metab Dis. 2007. PMID: 17216302
Diagnosis and management of glutaric aciduria type I.
Barić I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Müller E, Morton DH, Superti-Furga A, Hoffmann GF. Barić I, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1998 Jun;21(4):326-40. doi: 10.1023/a:1005390105171. J Inherit Metab Dis. 1998. PMID: 9700590 Review.
618 results