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PY - 2011 DA - 2011// TI - A molecular-based estimation of the prevalence of Hypophosphatasia in the European population JO - Ann Hum Genet VL - 75 UR - https://doi.org/10.1111/j.1469-1809.2011.00642.x DO - 10.1111/j.1469-1809.2011.00642.x ID - Mornet2011 ER - TY - JOUR AU - Berkseth, K. E. AU - Tebben, P. J. AU - Drake, M. T. AU - Hefferan, T. E. AU - Jewison, D. E. AU - Wermers, R. A. PY - 2013 DA - 2013// TI - Clinical spectrum of hypophosphatasia diagnosed in adults JO - Bone. VL - 54 UR - https://doi.org/10.1016/j.bone.2013.01.024 DO - 10.1016/j.bone.2013.01.024 ID - Berkseth2013 ER - TY - JOUR AU - Maman, E. AU - Borderie, D. AU - Roux, C. AU - Briot, K. PY - 2016 DA - 2016// TI - Absence of recognition of low alkaline phosphatase level in a tertiary care hospital JO - Osteoporos Int VL - 27 UR - https://doi.org/10.1007/s00198-015-3346-0 DO - 10.1007/s00198-015-3346-0 ID - Maman2016 ER - TY - JOUR AU - Guañabens, N. AU - Mumm, S. AU - Möller, I. AU - González-Roca, E. 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PY - 2014 DA - 2014// TI - Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia JO - Eur J Hum Genet VL - 22 UR - https://doi.org/10.1038/ejhg.2014.10 DO - 10.1038/ejhg.2014.10 ID - Hofmann2014 ER - TY - JOUR AU - McKiernan, F. E. AU - Berg, R. L. AU - Fuehrer, J. PY - 2014 DA - 2014// TI - Clinical and radiographic findings in adults with persistent hypophosphatasaemia JO - J Bone Miner Res VL - 29 UR - https://doi.org/10.1002/jbmr.2178 DO - 10.1002/jbmr.2178 ID - McKiernan2014 ER - TY - JOUR AU - Sutton, R. A. L. AU - Mumm, S. AU - Coburn, S. P. AU - Ericson, K. L. AU - Whyte, M. P. PY - 2012 DA - 2012// TI - “Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia JO - J Bone Miner Res VL - 27 UR - https://doi.org/10.1002/jbmr.1565 DO - 10.1002/jbmr.1565 ID - Sutton2012 ER - TY - JOUR AU - Cundy, T. AU - Michigami, T. AU - Tachikawa, K. AU - Dray, M. AU - Collins, J. F. AU - Paschalis, E. P. PY - 2015 DA - 2015// TI - Reversible deterioration in Hypophosphatasia caused by renal failure with bisphosphonate treatment JO - J Bone Miner Res VL - 30 UR - https://doi.org/10.1002/jbmr.2495 DO - 10.1002/jbmr.2495 ID - Cundy2015 ER - TY - JOUR AU - Mori, M. AU - DeArmey, S. L. AU - Weber, T. J. AU - Kishnani, P. S. PY - 2016 DA - 2016// TI - Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth JO - Bone Rep VL - 5 UR - https://doi.org/10.1016/j.bonr.2016.08.004 DO - 10.1016/j.bonr.2016.08.004 ID - Mori2016 ER - TY - JOUR AU - Högler, W. AU - Langman, C. AU - Gomes Da Silva, H. AU - Fang, S. AU - Linglart, A. PY - 2019 DA - 2019// TI - Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry JO - BMC Musculoskelet Disord VL - 20 UR - https://doi.org/10.1186/s12891-019-2420-8 DO - 10.1186/s12891-019-2420-8 ID - Högler2019 ER - TY - JOUR AU - Schmidt, T. AU - Mussawy, H. AU - Rolvien, T. AU - Hawellek, T. AU - Hubert, J. AU - Rüther, W. PY - 2017 DA - 2017// TI - Clinical, radiographic and biochemical characteristics of adult hypophosphatasia JO - Osteoporos Int VL - 28 UR - https://doi.org/10.1007/s00198-017-4087-z DO - 10.1007/s00198-017-4087-z ID - Schmidt2017 ER - TY - JOUR AU - Weber, T. J. AU - Sawyer, E. K. AU - Moseley, S. AU - Odrljin, T. AU - Kishnani, P. S. 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PY - 2017 DA - 2017// TI - Mutational and biochemical findings in adults with persistent hypophosphatasaemia JO - Osteoporos Int VL - 28 UR - https://doi.org/10.1007/s00198-017-4035-y DO - 10.1007/s00198-017-4035-y ID - McKiernan2017 ER - TY - JOUR AU - Richards, S. AU - Aziz, N. AU - Bale, S. PY - 2015 DA - 2015// TI - Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology JO - Genet Med VL - 17 UR - https://doi.org/10.1038/gim.2015.30 DO - 10.1038/gim.2015.30 ID - Richards2015 ER - TY - JOUR AU - Shapiro, J. R. AU - Lewiecki, E. M. PY - 2017 DA - 2017// TI - Hypophosphatasia in adults: clinical assessment and treatment considerations JO - J Bone Miner Res VL - 32 UR - https://doi.org/10.1002/jbmr.3226 DO - 10.1002/jbmr.3226 ID - Shapiro2017 ER - TY - JOUR AU - Whyte, M. P. PY - 2016 DA - 2016// TI - Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment JO - Nat Rev Endocrinol VL - 12 UR - https://doi.org/10.1038/nrendo.2016.14 DO - 10.1038/nrendo.2016.14 ID - Whyte2016 ER - TY - JOUR AU - Taillandier, A. AU - Domingues, C. AU - Cazanove, C. AU - Porquet-Bordes, V. AU - Monnot, S. AU - Kiffer-Moreira, T. PY - 2015 DA - 2015// TI - Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted next generation sequencing JO - Mol Genet Metab VL - 116 UR - https://doi.org/10.1016/j.ymgme.2015.09.010 DO - 10.1016/j.ymgme.2015.09.010 ID - Taillandier2015 ER - TY - JOUR AU - Silvent, J. AU - Gasse, B. AU - Mornet, E. AU - Sire, J. -. Y. PY - 2014 DA - 2014// TI - Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for Hypophosphatasia JO - J Biol Chem VL - 289 UR - https://doi.org/10.1074/jbc.M114.576843 DO - 10.1074/jbc.M114.576843 ID - Silvent2014 ER - TY - JOUR AU - Mornet, E. AU - Taillandier, A. AU - Peyramaure, S. AU - Kaper, F. AU - Muller, F. AU - Brenner, R. PY - 1998 DA - 1998// TI - Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia JO - Eur J Hum Genet VL - 6 UR - https://doi.org/10.1038/sj.ejhg.5200190 DO - 10.1038/sj.ejhg.5200190 ID - Mornet1998 ER - TY - JOUR AU - Whyte, M. P. AU - Zhang, F. AU - Wenkert, D. AU - McAlister, W. H. AU - Mack, K. E. AU - Benigno, M. C. 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PY - 2001 DA - 2001// TI - Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia JO - Hum Mutat VL - 18 UR - https://doi.org/10.1002/humu.1154 DO - 10.1002/humu.1154 ID - Taillandier2001 ER - TY - JOUR AU - Orimo, H. AU - Hayashi, Z. AU - Watanabe, A. AU - Hirayama, T. AU - Hirayama, T. PY - 1994 DA - 1994// TI - Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia JO - Hum Mol Genet VL - 3 UR - https://doi.org/10.1093/hmg/3.9.1683 DO - 10.1093/hmg/3.9.1683 ID - Orimo1994 ER - TY - JOUR AU - Spentchian, M. AU - Merrien, Y. AU - Herasse, M. AU - Dobbie, Z. AU - Gläser, D. AU - Holder, S. E. 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PY - 2000 DA - 2000// TI - Fifteen new mutations (−195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia JO - Hum Mutat VL - 15 UR - https://doi.org/3.0.CO;2-Q DO - 3.0.CO;2-Q ID - Taillandier2000 ER - TY - JOUR AU - Henthorn, P. S. AU - Raducha, M. AU - Fedde, K. N. AU - Lafferty, M. A. AU - Whyte, M. P. PY - 1992 DA - 1992// TI - Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia JO - Proc Natl Acad Sci U S A VL - 89 UR - https://doi.org/10.1073/pnas.89.20.9924 DO - 10.1073/pnas.89.20.9924 ID - Henthorn1992 ER - TY - JOUR AU - Taillandier, A. AU - Zurutuza, L. AU - Muller, F. AU - Simon-Bouy, B. AU - Serre, J. L. AU - Bird, L. 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