Asfotase alfa improved skeletal mineralization and fracture healing in a child with MCAHS.

[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.