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Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.
Griese M, Brasch F, Aldana VR, Cabrera MM, Goelnitz U, Ikonen E, Karam BJ, Liebisch G, Linder MD, Lohse P, Meyer W, Schmitz G, Pamir A, Ripper J, Rolfs A, Schams A, Lezana FJ. Griese M, et al. Among authors: schmitz g. Clin Genet. 2010 Feb;77(2):119-30. doi: 10.1111/j.1399-0004.2009.01325.x. Epub 2009 Dec 10. Clin Genet. 2010. PMID: 20002450
Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis.
Kleinlein B, Griese M, Liebisch G, Krude H, Lohse P, Aslanidis C, Schmitz G, Peters J, Holzinger A. Kleinlein B, et al. Among authors: schmitz g. Arch Dis Child Fetal Neonatal Ed. 2011 Nov;96(6):F453-6. doi: 10.1136/adc.2009.180448. Epub 2010 Jun 28. Arch Dis Child Fetal Neonatal Ed. 2011. PMID: 20584796
Altered lipid metabolism in a Drosophila model of Friedreich's ataxia.
Navarro JA, Ohmann E, Sanchez D, Botella JA, Liebisch G, Moltó MD, Ganfornina MD, Schmitz G, Schneuwly S. Navarro JA, et al. Among authors: schmitz g. Hum Mol Genet. 2010 Jul 15;19(14):2828-40. doi: 10.1093/hmg/ddq183. Epub 2010 May 10. Hum Mol Genet. 2010. PMID: 20460268 Free PMC article.
996 results