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Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: wilcken b. J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431622 Free PMC article. Review.
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Kölker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, Burlina AP, Dixon M, Duran M, Goodman SI, Koeller DM, Müller E, Naughten ER, Neumaier-Probst E, Okun JG, Kyllerman M, Surtees RA, Wilcken B, Hoffmann GF, Burgard P. Kölker S, et al. Among authors: wilcken b. J Inherit Metab Dis. 2007 Feb;30(1):5-22. doi: 10.1007/s10545-006-0451-4. Epub 2007 Jan 3. J Inherit Metab Dis. 2007. PMID: 17203377
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.
Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J. Ly TB, et al. Among authors: wilcken b. Hum Mutat. 2003 Apr;21(4):401-7. doi: 10.1002/humu.10202. Hum Mutat. 2003. PMID: 12655555
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.
Okun JG, Gan-Schreier H, Ben-Omran T, Schmidt KV, Fang-Hoffmann J, Gramer G, Abdoh G, Shahbeck N, Al Rifai H, Al Khal AL, Haege G, Chiang CC, Kasper DC, Wilcken B, Burgard P, Hoffmann GF. Okun JG, et al. Among authors: wilcken b. JIMD Rep. 2017;32:87-94. doi: 10.1007/8904_2016_556. Epub 2016 Jun 21. JIMD Rep. 2017. PMID: 27325427 Free PMC article.
Antenatal diagnosis of glutaric acidemia.
Goodman SI, Gallegos DA, Pullin CJ, Halpern B, Truscott RJ, Wise G, Wilcken B, Ryan ED, Whelen DT. Goodman SI, et al. Among authors: wilcken b. Am J Hum Genet. 1980 Sep;32(5):695-9. Am J Hum Genet. 1980. PMID: 6893520 Free PMC article.
233 results