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Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene.
Baumgartner-Sigl S, Haberlandt E, Mumm S, Scholl-Bürgi S, Sergi C, Ryan L, Ericson KL, Whyte MP, Högler W. Baumgartner-Sigl S, et al. Among authors: hogler w. Bone. 2007 Jun;40(6):1655-61. doi: 10.1016/j.bone.2007.01.020. Epub 2007 Feb 14. Bone. 2007. PMID: 17395561
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
Cabral WA, Ishikawa M, Garten M, Makareeva EN, Sargent BM, Weis M, Barnes AM, Webb EA, Shaw NJ, Ala-Kokko L, Lacbawan FL, Högler W, Leikin S, Blank PS, Zimmerberg J, Eyre DR, Yamada Y, Marini JC. Cabral WA, et al. Among authors: hogler w. PLoS Genet. 2016 Jul 21;12(7):e1006156. doi: 10.1371/journal.pgen.1006156. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27441836 Free PMC article.
Amalgamated Reference Data for Size-Adjusted Bone Densitometry Measurements in 3598 Children and Young Adults-the ALPHABET Study.
Crabtree NJ, Shaw NJ, Bishop NJ, Adams JE, Mughal MZ, Arundel P, Fewtrell MS, Ahmed SF, Treadgold LA, Högler W, Bebbington NA, Ward KA; ALPHABET Study Team. Crabtree NJ, et al. Among authors: hogler w. J Bone Miner Res. 2017 Jan;32(1):172-180. doi: 10.1002/jbmr.2935. Epub 2016 Sep 7. J Bone Miner Res. 2017. PMID: 27490028 Free PMC article.
177 results