[HTML][HTML] Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa
PS Kishnani, ET Rush, P Arundel, N Bishop… - Molecular genetics and …, 2017 - Elsevier
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by
autosomal recessive mutations or a single dominant-negative mutation in the gene …
autosomal recessive mutations or a single dominant-negative mutation in the gene …
[HTML][HTML] Dental manifestation and management of hypophosphatasia
Hypophosphatasia is an inherited metabolic disorder characterized by defective
mineralization of bones and teeth with a wide variety of manifestations, ranging from stillbirth …
mineralization of bones and teeth with a wide variety of manifestations, ranging from stillbirth …
Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome
U Lepperdinger, C Angwin, D Milnes… - Journal of Clinical …, 2022 - Wiley Online Library
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 …
Danlos syndrome characterized by periodontal destruction at a young age. The present …
Effects of infantile hypophosphatasia on human dental tissue
EM Wölfel, S von Kroge, L Matthies, T Koehne… - Calcified Tissue …, 2023 - Springer
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 …
variants of the ALPL gene encoding the enzyme tissue non-specific alkaline phosphatase …
The impact of enzyme replacement therapy on the oral health manifestations of hypophosphatasia among children: a scoping review
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 …
form of asfotase alfa to decrease the severity of oral manifestations in children with …
Orthodontic management of a patient with short root anomaly and impacted teeth
M Vishwanath, PJ Chen, M Upadhyay… - American Journal of …, 2019 - Elsevier
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 …
Orthodontic treatment of patients with SRA is challenging because it is difficult to diagnose, it …
A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study
Hypophosphatasia (HPP) is an inherited metabolic disorder that causes defective skeletal
and dental mineralization. HPP exhibits a markedly heterogeneous range of clinical …
and dental mineralization. HPP exhibits a markedly heterogeneous range of clinical …
Early exfoliation of permanent tooth in patient with hypophosphatasia
Background Hypophosphatasia (HPP) is a rare inherited skeletal disorder caused by
mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase, with early …
mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase, with early …
[HTML][HTML] Genetic evaluations of Chinese patients with odontohypophosphatasia resulting from heterozygosity for mutations in the tissue-non-specific alkaline …
J Wan, L Zhang, T Liu, Y Wang - Oncotarget, 2017 - ncbi.nlm.nih.gov
Background Hypophosphatasia is a rare heritable metabolic disorder characterized by
defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific …
defective bone and tooth mineralization accompanied by a deficiency of tissue-non-specific …
A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia
L Martins, EL dos Santos, AB de Almeida… - Osteoporosis …, 2020 - Springer
Using genetic, clinical, biochemical, and radiographic assessment and bioinformatic
approaches, we present an unusual case of adult HPP caused by a novel de novo …
approaches, we present an unusual case of adult HPP caused by a novel de novo …