Asfotase alfa improved skeletal mineralization and fracture healing in a child with MCAHS.
暂无分享,去创建一个
[1] A. Pepler,et al. Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - The clinical and molecular summary. , 2022, European journal of medical genetics.
[2] A. Pagnamenta,et al. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. , 2022, Genetics in medicine : official journal of the American College of Medical Genetics.
[3] J. Fowlkes,et al. Emerging therapies for the treatment of rare pediatric bone disorders , 2022, Frontiers in Pediatrics.
[4] T. Arányi,et al. Plasma Inorganic Pyrophosphate Deficiency Links Multiparity to Cardiovascular Disease Risk , 2020, Frontiers in Cell and Developmental Biology.
[5] Constantin Schmidt,et al. Bone healing and reactivation of remodeling under asfotase alfa therapy in adult patients with pediatric-onset hypophosphatasia. , 2020, Bone.
[6] T. Wu,et al. The Glycosylphosphatidylinositol biosynthesis pathway in human diseases , 2020, Orphanet Journal of Rare Diseases.
[7] J. Simmons,et al. Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data. , 2020, Bone.
[8] J. Salles. Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy. , 2020, The Clinical biochemist. Reviews.
[9] F. Rauch,et al. Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. , 2019, Bone.
[10] A. Hamosh,et al. Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN‐related epilepsy , 2016, American journal of medical genetics. Part A.
[11] T. Kinoshita. Biosynthesis and deficiencies of glycosylphosphatidylinositol , 2014, Proceedings of the Japan Academy. Series B, Physical and biological sciences.
[12] C. Gordon,et al. 2013 Pediatric Position Development Conference: executive summary and reflections. , 2014, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.
[13] T. Hangartner,et al. Optimal monitoring time interval between DXA measures in children , 2011, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.
[14] T. Hangartner,et al. Revised reference curves for bone mineral content and areal bone mineral density according to age and sex for black and non-black children: results of the bone mineral density in childhood study. , 2011, The Journal of clinical endocrinology and metabolism.
[15] 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.
[16] B. Manaster,et al. Radiographic scoring method for the assessment of the severity of nutritional rickets. , 2000, Journal of tropical pediatrics.