Results 111 to 120 of about 6,701 (243)

Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred. [PDF]

, 1980
José Luís Millán, Michael P. Whyte, L V Avioli, W. H. Fishman   +3 more
openalex   +1 more source

A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia

AACE Clinical Case Reports, 2022
Background/Objective: Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare subtype of the heritable connective tissue disorder characterized in the 2017 Ehlers-Danlos syndrome (EDS) nosology.
Antara Dattagupta, BS, Shelley Williamson, MD, Lamees I. El Nihum, MD, MEng, Steven Petak, MD, JD   +3 more
doaj  

Effects of calcitonin in a case of congenital hypophosphatasia: 42 [PDF]

, 1980
Ian McKinlay, J. D. Crombie, N. R. Belton, D G Barr   +3 more
openalex   +1 more source

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. [PDF]

, 1992
Paula S. Henthorn, M Raducha, K N Fedde, M A Lafferty, Michael P. Whyte   +4 more
openalex   +1 more source

EXPERT COUNCIL RESOLUTION ON THE DEFINITION OF TACTICS OF MANAGING PATIENTS WITH HYPOPHOSPHATASIA FOLLOWING THE MEETING OF NOVEMBER 21, 2015, MOSCOW

Педиатрическая фармакология, 2016
EXPERT COUNCIL RESOLUTION ON THE DEFINITION OF TACTICS OF MANAGING PATIENTS WITH HYPOPHOSPHATASIA FOLLOWING THE MEETING OF NOVEMBER 21, 2015 ...
article Editorial
doaj  

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia [PDF]

, 1998
Naoya Sugimoto, Sadahiko Iwamoto, Yuichi Hoshino, Eiji Kajii   +3 more
openalex   +1 more source

Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia

Frontiers in Cell and Developmental Biology
IntroductionBesides skeletal symptoms, dental abnormalities are a typical feature of the rare inherited disorder hypophosphatasia (HPP), which is caused by loss of function mutations in the ALPL gene (alkaline phosphatase, biomineralization associated ...
Jana Schiffmaier, Jana Schiffmaier, Sofia Rehling, Sofia Rehling, Katharina Marnet, Katharina Marnet, Angela Borst, Drenka Trivanović, Drenka Trivanović, Drenka Trivanović, Denitsa Docheva, Franz Jakob, Stephanie Graser, Marietta Herrmann, Daniel Liedtke   +14 more
doaj   +1 more source

Possible interference between tissue-non-specific alkaline phosphatase with an Arg54→Cys substitution and a counterpart with an Asp277→Ala substitution found in a compound heterozygote associated with severe hypophosphatasia [PDF]

, 2000
Mariko Fukushi-Irie, M. Ito, Yoshihiro Amaya, Norio Amizuka, Hideharo Ozawa, Satoshi Ōmura, Yuzuru Ikehara, Kazutaka Oda   +7 more
openalex   +1 more source

Dental manifestation and management of hypophosphatasia

Japanese Dental Science Review, 2022
Hypophosphatasia is an inherited metabolic disorder characterized by defective mineralization of bones and teeth with a wide variety of manifestations, ranging from stillbirth to dental symptoms alone.
Rena Okawa, Kazuhiko Nakano
doaj  

Conference & School on Extracellular vesicles and Nanoparticles 2024 (CSEVP‐2024)

Journal of Extracellular Biology, Volume 4, Issue S1, April 2025.
wiley   +1 more source