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Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.
Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF. Opladen T, et al. Among authors: zschocke j. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Hoffmann GF, et al. Among authors: zschocke j. Neuropediatrics. 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761. Neuropediatrics. 1996. PMID: 8837070
Phenylketonuria mutations in Germany.
Zschocke J, Hoffmann GF. Zschocke J, et al. Hum Genet. 1999 May;104(5):390-8. doi: 10.1007/s004390050973. Hum Genet. 1999. PMID: 10394930
Mutation analysis in glutaric aciduria type I.
Zschocke J, Quak E, Guldberg P, Hoffmann GF. Zschocke J, et al. J Med Genet. 2000 Mar;37(3):177-81. doi: 10.1136/jmg.37.3.177. J Med Genet. 2000. PMID: 10699052 Free PMC article.
335 results