Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by
autosomal recessive mutations or a single dominant-negative mutation in the gene …

Hypophosphatasia is an inherited metabolic disorder characterized by defective
mineralization of bones and teeth with a wide variety of manifestations, ranging from stillbirth …

Abstract Aim Periodontal Ehlers‐Danlos syndrome (pEDS) is a monogenic type of Ehlers‐
Danlos syndrome characterized by periodontal destruction at a young age. The present …

Purpose A scoping review to describe the use of enzyme replacement therapy (ERT) in the
form of asfotase alfa to decrease the severity of oral manifestations in children with …

Hypophosphatasia (HPP) is an inherited, systemic disorder, caused by loss-of-function
variants of the ALPL gene encoding the enzyme tissue non-specific alkaline phosphatase …

Short root anomaly (SRA) is a rare familial dental condition that is often misdiagnosed.
Orthodontic treatment of patients with SRA is challenging because it is difficult to diagnose, it …

Hypophosphatasia (HPP) is an inherited metabolic disorder that causes defective skeletal
and dental mineralization. HPP exhibits a markedly heterogeneous range of clinical …

Background Hypophosphatasia (HPP) is a rare inherited skeletal disorder caused by
mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase, with early …

Background Hypophosphatasia is a rare heritable metabolic disorder characterized by
defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific …

Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic
approaches, we present an unusual case of adult HPP caused by a novel de novo …