Literature DB >> 32162014

Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment.

M L Bianchi1, N J Bishop2, N Guañabens3, C Hofmann4, F Jakob5, C Roux6, M C Zillikens7.   

Abstract

This article provides an overview of the current knowledge on hypophosphatasia-a rare genetic disease of very variable presentation and severity-with a special focus on adolescents and adults. It summarizes the available information on the many known mutations of tissue-nonspecific alkaline phosphatase (TNSALP), the epidemiology and clinical presentation of the disease in adolescents and adults, and the essential diagnostic clues. The last section reviews the therapeutic approaches, including recent reports on enzyme replacement therapy (EnzRT).

Entities:  

Keywords:  Alkaline phosphatase; Bone; Fractures; Hypomineralization; Hypophosphatasia; Teeth

Mesh：

Substances：

Year:  2020        PMID： 32162014     DOI： 10.1007/s00198-020-05345-9

Source DB:  PubMed          Journal:  Osteoporos Int        ISSN： 0937-941X            Impact factor:   4.507


  9 in total

Review 1.  Dental manifestation and management of hypophosphatasia.

Authors:  Rena Okawa; Kazuhiko Nakano
Journal:  Jpn Dent Sci Rev       Date:  2022-07-02

2.  Multidisciplinary Management of Infantile Hypophosphatasia Resulting in Radiographic and Clinical Improvement: A Case Report.

Authors:  Leeann Qubain; Pamela Smith; Neeraj Vij; Mohan Belthur
Journal:  Cureus       Date:  2022-05-28

3.  Hypophosphatasia: A Case of Two Patients With Spinal Cord Compression From Increase in Ligamentous Ossifications During Treatment.

Authors:  Michel Laroche; Guillaume Couture; Marie Faruch; Adeline Ruyssen-Witrand; Valérie Porquet-Bordes; Jean Pierre Salles; Yannick Degboe
Journal:  JBMR Plus       Date:  2021-03-05

Review 4.  Tissue-Nonspecific Alkaline Phosphatase-A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease.

Authors:  Daniel Liedtke; Christine Hofmann; Franz Jakob; Eva Klopocki; Stephanie Graser
Journal:  Biomolecules       Date:  2020-12-08

Review 5.  Hypophosphatasia: A Unique Disorder of Bone Mineralization.

Authors:  Juan Miguel Villa-Suárez; Cristina García-Fontana; Francisco Andújar-Vera; Sheila González-Salvatierra; Tomás de Haro-Muñoz; Victoria Contreras-Bolívar; Beatriz García-Fontana; Manuel Muñoz-Torres
Journal:  Int J Mol Sci       Date:  2021-04-21       Impact factor: 5.923

Review 6.  Hypophosphatasia.

Authors:  Symeon Tournis; Maria P Yavropoulou; Stergios A Polyzos; Artemis Doulgeraki
Journal:  J Clin Med       Date:  2021-12-01       Impact factor: 4.241

7.  Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.

Authors:  C Tornero; V Navarro-Compán; A Buño; K E Heath; M Díaz-Almirón; A Balsa; J A Tenorio; J Quer; P Aguado
Journal:  Orphanet J Rare Dis       Date:  2022-03-03       Impact factor: 4.123

Review 8.  Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.

Authors:  Alice Costantini; Riikka E Mäkitie; Markus A Hartmann; Nadja Fratzl-Zelman; M Carola Zillikens; Uwe Kornak; Kent Søe; Outi Mäkitie
Journal:  J Bone Miner Res       Date:  2022-09-11       Impact factor: 6.390

9.  Gene Therapy Using Adeno-Associated Virus Serotype 8 Encoding TNAP-D10 Improves the Skeletal and Dentoalveolar Phenotypes in Alpl-/- Mice.

Authors:  Yuka Kinoshita; Fatma F Mohamed; Flavia Amadeu de Oliveira; Sonoko Narisawa; Koichi Miyake; Brian L Foster; José Luis Millán
Journal:  J Bone Miner Res       Date:  2021-06-15       Impact factor: 6.741
  9 in total

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