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Page 1
Clinical and biochemical spectrum of D-bifunctional protein deficiency.
Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT. Ferdinandusse S, et al. Among authors: gartner j. Ann Neurol. 2006 Jan;59(1):92-104. doi: 10.1002/ana.20702. Ann Neurol. 2006. PMID: 16278854
Clinical utility gene card for: Zellweger syndrome spectrum.
Rosewich H, Waterham H, Poll-The BT, Ohlenbusch A, Gärtner J. Rosewich H, et al. Among authors: gartner j. Eur J Hum Genet. 2015 Aug;23(8):1111-. doi: 10.1038/ejhg.2014.250. Epub 2014 Nov 19. Eur J Hum Genet. 2015. PMID: 25407003 Free PMC article. No abstract available.
Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy.
Linnebank M, Kemp S, Wanders RJ, Kleijer WJ, van der Sterre ML, Gärtner J, Fliessbach K, Semmler A, Sokolowski P, Köhler W, Schlegel U, Schmidt S, Klockgether T, Wüllner U. Linnebank M, et al. Among authors: gartner j. Neurology. 2006 Feb 14;66(3):442-3. doi: 10.1212/01.wnl.0000196491.42058.6f. Neurology. 2006. PMID: 16476952
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, Fiori S, Lourenço CM, Sawyer S, Steinfeld R, Gärtner J, Brockmann K. Rosewich H, et al. Among authors: gartner j. Neurology. 2014 Mar 18;82(11):945-55. doi: 10.1212/WNL.0000000000000212. Epub 2014 Feb 12. Neurology. 2014. PMID: 24523486
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
Henneke M, Preuss N, Engelbrecht V, Aksu F, Bertini E, Bibat G, Brockmann K, Hübner C, Mayer M, Mejaski-Bosnjak V, Naidu S, Neumaier-Probst E, Rodriguez D, Weisz W, Kohlschütter A, Gärtner J. Henneke M, et al. Among authors: gartner j. Neurology. 2005 Apr 26;64(8):1411-6. doi: 10.1212/01.WNL.0000158472.82823.01. Neurology. 2005. PMID: 15851732
671 results