Hypophosphatasia now draws more attention of both clinicians and researchers: A Commentary on prevelance of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers
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[1] 王林,et al. Orphanet , 2011 .
[2] S. Ikegawa,et al. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers , 2011, Journal of Human Genetics.
[3] J. Millán,et al. Prolonged Survival and Phenotypic Correction of Akp2−/− Hypophosphatasia Mice by Lentiviral Gene Therapy , 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[4] M. Whyte. Physiological role of alkaline phosphatase explored in hypophosphatasia , 2010, Annals of the New York Academy of Sciences.
[5] P. Ebeling,et al. Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. , 2010, The Journal of clinical endocrinology and metabolism.
[6] K. Ozono,et al. Clinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases , 2010, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.
[7] J. Carey,et al. Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. , 2008, The Journal of clinical endocrinology and metabolism.
[8] R. Terkeltaub,et al. Enzyme Replacement Therapy for Murine Hypophosphatasia , 2007, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[9] S. Mumm,et al. Adult hypophosphatasia treated with teriparatide. , 2007, The Journal of clinical endocrinology and metabolism.
[10] T. Uchihashi,et al. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia , 2005, European Journal of Pediatrics.
[11] J. Kurtzberg,et al. Marrow Cell Transplantation for Infantile Hypophosphatasia , 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[12] E. Mornet,et al. Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients , 2002, European Journal of Human Genetics.
[13] P. Schneider,et al. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. , 2000, The Journal of clinical endocrinology and metabolism.
[14] J. Millán,et al. Alkaline Phosphatase Knock‐Out Mice Recapitulate the Metabolic and Skeletal Defects of Infantile Hypophosphatasia , 1999, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[15] C. Greenberg,et al. A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. , 1993, Genomics.