Inozyme Pharma, Inc. (Nasdaq: INZY) (“the Company” or “Inozyme”), a clinical-stage biopharmaceutical company developing innovative therapeutics for rare diseases that affect bone health and blood ...

This article will revise the novel treatment of two conditions that lead to hypophosphatemia with high FGF-23 levels: tumor-induced osteomalacia (TIO) and X-linked hypophosphatemic rickets (XLH). The ...

Children with this condition typically develop autosomal-recessive hypophosphatemic rickets type 2 (ARHR2), while adolescents and adults may develop osteomalacia, or softened bones. ARHR2 and ...

Mutations or dysregulation of related genes may contribute to genetic diseases with dentin defects caused by impaired odontoblastic differentiation, including tricho-dento-osseous (TDO) syndrome, ...

A new review published in Genes & Diseases explores the multifaceted role of FAM20C, a Golgi protein kinase, in disease ...

A high Tm Pi in hypophosphatemia is indicative of increased renal excretion secondary to a PTH-mediated mechanism, Fanconi syndrome, XLH, autosomal dominant hypophosphatemic rickets or oncogenic ...

FGF23 is broadly implicated in human disease, including autosomal-dominant hypophosphataemic rickets, tumour-induced osteomalacia, familial tumoral calcinosis and end-stage kidney disease.

Nat Clin Pract Nephrol. 2006;2(3):136-148. Hypophosphatemia associated with primary hyperparathyroidism is usually of moderate severity; increased urinary phosphate excretion is balanced by ...

T. A. Palm, first directed the attention of the scientific world to the curative effect of sunlight on rickets. L. J. Harris 1, when dealing with the frequency of the occurrence of rickets in ...

ABSTRACT: This paper presents our endeavors in developing the large-scale, ultra-high-resolution E3SM Land Model (uELM), specifically designed for exascale computers furnished with accelerators such ...

hereditary vitamin D-resistant rickets, VDR-related, dog (MONDO:1012679) Parkinson disease, PINK1-related, crab-eating macaque (MONDO:1012875) Parkinson disease, LRRK2-related, white-tufted-ear ...