X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-
associated rickets of genetic origin and is associated with high levels of the phosphaturic …

Objective Hereditary hypophosphatemias (HH) are rare monogenic conditions characterized
by decreased renal tubular phosphate reabsorption. The aim of this study was to explore the …

Purpose Here, we review the skeletal effects of pediatric muscle disorders as well as muscle
impairment in pediatric bone disorders. Recent Findings When starting in utero, muscle …

X-linked hypophosphataemia (XLH) is caused by a pathogenic variant in the PHEX gene,
which leads to elevated circulating FGF23. High FGF23 causes hypophosphataemia …

Objectives Hypophosphataemic rickets (HR) is usually secondary to renal phosphate
wasting but may occur secondary to reduced intake or absorption of phosphate. We …

Purpose Patients with hereditary hypophosphatemic rickets are short and disproportionate
and very little information is available on segmental growth, but the body disproportion at …

Objective Mineral bioavailability from food is important for infants and young children.
Mineral bioavailability is influenced by many factors, including eg, the food matrix, mineral …

In the past decade, research in genetic disorders of hypophosphatemic disorders has
significantly expanded our understanding of phosphate metabolism. X-linked …

Objective: Availability and absorption of phosphate is crucial for bone mineralization.
Hypophosphatemia can lead to defective bone mineralization and consequently, rickets …

Bajo el término pseudohipoparatiroidismo (PHP) y enfermedades relacionadas se engloba
un espectro de enfermedades endocrinas poco frecuentes cuya característica más …