Expanding the Autosomal Recessive Hypophosphatemic Rickets Type I Carrier Phenotype and Adult Treatment with Burosumab.

Optimizing diagnosis and management of patients with ENPP1 deficiency: an expert opinion.

Phenotypic Diversity in Autosomal Recessive Hypophosphatemic Rickets Type 2.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy.

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic PHEX variants.

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis.

The prevalence of ENPP1 deficiency in humans with OPLL and the preclinical efficacy of ENPP1 enzyme therapy in OPLL mice.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2): Is phosphate supplementation safe?

Improvements in hearing loss with bone-targeted enzyme replacement therapy are associated with corrected hypomineralization and osteocyte properties of auditory ossicles in Enpp1-deficient mice.

The impact of monoallelic inactivation mutations in the ENPP1 gene on pediatric skeletal development: a case report and literature review.

Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.

Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.

Clinical presentation and burden of ENPP1 deficiency in adults.

Autosomal recessive hypophosphatemic rickets type 2 due to ENPP1 deficiency (ARHR2).

Commentary on: The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.

Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl.

Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets.

The use of burosumab to treat autosomal-recessive hypophosphatemic rickets type 2: rationale and a first clinical experience.

FGF23 directly inhibits osteoprogenitor differentiation in Dmp1-knockout mice.

ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.

Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments.

Case report: Multiple arterial stenoses induced by autosomal-recessive hypophosphatemic rickets type 2 associated with mutation of ENPP1: a case study.

Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults.

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases.

The First Compound Heterozygous Mutations of DMP1 Causing Rare Autosomal Recessive Hypophosphatemic Rickets Type 1.

First report in Argentina of a pathogenic DMP1 variant associated with autosomal recessive hypophosphatemic rickets.

Osteocytes and the pathogenesis of hypophosphatemic rickets.

Phosphatonins: From Discovery to Therapeutics.

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.

Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene.

Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.

Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1).

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

Identification of ENPP1 Haploinsufficiency in Patients With Diffuse Idiopathic Skeletal Hyperostosis and Early-Onset Osteoporosis.

A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method.

Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.

INZ-701 Prevents Ectopic Tissue Calcification and Restores Bone Architecture and Growth in ENPP1-Deficient Mice.

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).

Genetic pathways disrupted by ENPP1 deficiency provide insight into mechanisms of osteoporosis, osteomalacia, and paradoxical mineralization.

Clinical Characteristics and Bone Features of Autosomal Recessive Hypophosphatemic Rickets Type 1 in Three Chinese Families: Report of Five Chinese Cases and Review of the Literature.

New Therapies for Hypophosphatemia-Related to FGF23 Excess.

Generalized Arterial Calcification of Infancy: New Insights, Controversies, and Approach to Management.

Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?

Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations.

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.

FGF23 and Associated Disorders of Phosphate Wasting.

A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.

Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis.

Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets.

Sclerostin antibody (Scl-Ab) improves osteomalacia phenotype in dentin matrix protein 1(Dmp1) knockout mice with little impact on serum levels of phosphorus and FGF23.

Transgenic expression of Dspp partially rescued the long bone defects of Dmp1-null mice.

Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy.

Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.