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Page 1
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
Phenylketonuria mutations in Germany.
Zschocke J, Hoffmann GF. Zschocke J, et al. Among authors: hoffmann gf. Hum Genet. 1999 May;104(5):390-8. doi: 10.1007/s004390050973. Hum Genet. 1999. PMID: 10394930
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy.
Bagci S, Zschocke J, Hoffmann GF, Bast T, Klepper J, Müller A, Heep A, Bartmann P, Franz AR. Bagci S, et al. Among authors: hoffmann gf. Arch Dis Child Fetal Neonatal Ed. 2008 Mar;93(2):F151-2. doi: 10.1136/adc.2006.115162. Arch Dis Child Fetal Neonatal Ed. 2008. PMID: 18296573
Molecular and functional characterisation of mild MCAD deficiency.
Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E. Zschocke J, et al. Among authors: hoffmann gf. Hum Genet. 2001 May;108(5):404-8. doi: 10.1007/s004390100501. Hum Genet. 2001. PMID: 11409868
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
Aledo R, Zschocke J, Pié J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG. Aledo R, et al. Among authors: hoffmann gf. Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554. Hum Genet. 2001. PMID: 11479731
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.
Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S. Danhauser K, et al. Among authors: hoffmann gf. Am J Hum Genet. 2012 Dec 7;91(6):1082-7. doi: 10.1016/j.ajhg.2012.10.006. Epub 2012 Nov 8. Am J Hum Genet. 2012. PMID: 23141293 Free PMC article.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. Haack TB, et al. Among authors: hoffmann gf. Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073778 Free PMC article.
618 results