Bone defects can arise from trauma or pathological factors, resulting in compromised bone
integrity and the loss or absence of bone tissue. As we are all aware, repairing bone defects …

Rare bone diseases are clinically and genetically heterogenous. Despite those differences,
the underlying pathophysiology is not infrequently different. Several of these diseases are …

Background Hypophosphatasia (HPP) is a rare disease caused by deficient activity of tissue-
nonspecific alkaline phosphatase (ALP), encoded by the ALPL gene. The primary objective …

Introduction: Adult hypophosphatasia (HPP) patients present with diffuse heterogenous
symptoms often mimicking rheumatological diseases or osteoporosis and therefore …

BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-
function variants in the ALPL gene, leading to deficient tissue-nonspecific alkaline …

Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue‐
nonspecific alkaline phosphatase activity due to ALPL gene variants. We describe ALPL …

Background Hypophosphatasia (HPP) is a rare inherited disease that affects multiple organ
systems including bone and teeth. Limited knowledge exists on dental and oral health in …

Aim The aim of this study was to investigate the role of pyridoxal-5-phosphate (PLP) level on
the oral health status as a predictive marker in patients with hypophosphatasia (HPP) …

Background: Hypophosphatasemia is often overlooked despite its potential to indicate
underlying pathologies. The aim of this study was to determine the prevalence of persistent …

Hypophosphatasia (HPP) is characterized by low activity of tissue nonspecific alkaline
phosphatase (TNSALP). The enzyme replacement therapy asfotase alfa has been approved …