Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations

Defective Mineralization in X-Linked Hypophosphatemia Dental Pulp Cell Cultures

(2017) B.R. Coyac et al.   JOURNAL OF DENTAL RESEARCH

The orthopaedic management of lower limb deformity in hypophosphataemic rickets

(2017) A. Horn et al.   Journal of Childrens Orthopaedics

Impaired quality of life in adults with X-linked hypophosphatemia and skeletal symptoms

(2016) Hélène Che et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Health-related quality of life and a cost-utility simulation of adults in the UK with osteogenesis imperfecta, X-linked hypophosphatemia and fibrous dysplasia

(2016) Lydia Forestier-Zhang et al.   Orphanet Journal of Rare Diseases

Minimally Invasive Surgical Management of Thoracic Ossification of the Ligamentum Flavum Associated with X-linked Hypophosphatemia

(2016) Alexander R. Riccio et al.   World Neurosurgery

Enamel and dentin mineralization in familial hypophosphatemic rickets: a micro-CT study

(2015) T R Ribeiro et al.   DENTOMAXILLOFACIAL RADIOLOGY

Prolonged Correction of Serum Phosphorus in Adults With X-Linked Hypophosphatemia Using Monthly Doses of KRN23

(2015) Erik A. Imel et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Conventional Therapy in Adults With X-Linked Hypophosphatemia: Effects on Enthesopathy and Dental Disease

(2015) Jessica Connor et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hypophosphatemic rickets: etiology, clinical features and treatment

(2014) Vito Pavone et al.   European Journal of Orthopaedic Surgery and Traumatology

Dental manifestations of patient with Vitamin D-resistant rickets

(2014) Andreia Pereira SOUZA et al.   Journal of Applied Oral Science

Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia

(2014) Thomas O. Carpenter et al.   JOURNAL OF CLINICAL INVESTIGATION

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

A New Equation to Estimate Glomerular Filtration Rate

(2013) Andrew S. Levey et al.   ANNALS OF INTERNAL MEDICINE

Regulation of Bone−Renal Mineral and Energy Metabolism: The PHEX, FGF23, DMP1, MEPE ASARM Pathway

(2012) Peter S. N. Rowe   CRITICAL REVIEWS IN EUKARYOTIC GENE EXPRESSION

Normal reference values for glomerular filtration rate: what do we really know?

(2012) P. Delanaye et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

A clinician's guide to X-linked hypophosphatemia

(2011) Thomas O Carpenter et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

(2011) Catherine Quinlan et al.   PEDIATRIC NEPHROLOGY

Regulation of Phosphate Homeostasis by PTH, Vitamin D, and FGF23

(2010) Clemens Bergwitz et al.   Annual Review of Medicine

Phenotype Presentation of Hypophosphatemic Rickets in Adults

(2010) Signe S. Beck-Nielsen et al.   CALCIFIED TISSUE INTERNATIONAL

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets

(2009) Céline Gaucher et al.   HUMAN GENETICS

Surgical treatment of multiple spinal canal stenoses associated with vitamin D-resistant rickets

(2009) Atsushi Kawaguchi et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Incidence and prevalence of nutritional and hereditary rickets in southern Denmark

(2008) Signe Sparre Beck-Nielsen et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Effect of Local Alignment on Compartmental Patterns of Knee Osteoarthritis

(2008) Fazel A Khan et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

MEPE-ASARM Peptides Control Extracellular Matrix Mineralization by Binding to Hydroxyapatite: An Inhibition Regulated by PHEX Cleavage of ASARM

(2008) William N Addison et al.   JOURNAL OF BONE AND MINERAL RESEARCH