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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.
Wolf NI, Harting I, Boltshauser E, Wiegand G, Koch MJ, Schmitt-Mechelke T, Martin E, Zschocke J, Uhlenberg B, Hoffmann GF, Weber L, Ebinger F, Rating D. Wolf NI, et al. Among authors: hoffmann gf. Neurology. 2005 Apr 26;64(8):1461-4. doi: 10.1212/01.WNL.0000158615.56071.E3. Neurology. 2005. PMID: 15851747
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: hoffmann gf. J Child Neurol. 2014 Jan;29(1):36-42. doi: 10.1177/0883073812469049. Epub 2012 Dec 26. J Child Neurol. 2014. PMID: 23271757
Lack of creatine in muscle and brain in an adult with GAMT deficiency.
Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Schulze A, et al. Among authors: hoffmann gf. Ann Neurol. 2003 Feb;53(2):248-51. doi: 10.1002/ana.10455. Ann Neurol. 2003. PMID: 12557293
Epilepsy and inborn errors of metabolism in children.
Wolf NI, García-Cazorla A, Hoffmann GF. Wolf NI, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2009 Oct;32(5):609. doi: 10.1007/s10545-009-1171-3. Epub 2009 Jul 31. J Inherit Metab Dis. 2009. PMID: 19642011 Review.
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF.
Assmann BE, Robinson RO, Surtees RA, Bräutigam C, Heales SJ, Wevers RA, Zschocke J, Hyland K, Sharma R, Hoffmann GF. Assmann BE, et al. Among authors: hoffmann gf. Neurology. 2004 May 25;62(10):1872-4. doi: 10.1212/01.wnl.0000126440.16612.51. Neurology. 2004. PMID: 15159499
599 results