Results 11 to 20 of about 9,342 (275)

Growth and disease burden in children with hypophosphatasia

Endocrine Connections, 2023
Objective: Hypophosphatasia, an inborn error of metabolism characterized by impaired bone mineralization, can affect growth. This study evaluated relationships between anthropometric parameters (height, weight, and body mass index) and clinical ...
Wolfgang Högler, Agnès Linglart, Anna Petryk, Priya S Kishnani, Lothar Seefried, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Kathryn Dahir, Gabriel Ángel Martos-Moreno   +9 more
doaj   +2 more sources

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report

Journal of Medical Case Reports
Background Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Shusuke Tokuchi, Toshihiro Kawano, Edward Hosea Ntege, Makoto Murahashi, Kentaro Ide, Nobuyuki Maruyama, Risako Suzuki, Mirei Takai-Nabeta, Tsuyoshi Nabeta, Hideo Tanaka, Yusuke Shimizu, Hiroyuki Nakamura   +11 more
doaj   +2 more sources

Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of ALPL gene variants [PDF]

Frontiers in Pediatrics
This study presents a case report of an 11-year-old boy with hypophosphatasia due to compound heterozygous ALPL gene genetic variants, focusing on the treatment effects of comprehensive approaches for this rare genetic disorder.
Qiongjie Jiao, Guixia Ma, Qian Ni
doaj   +2 more sources

The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult‐Onset Hypophosphatasia [PDF]

JBMR Plus, 2023
Hypophosphatasia (HPP) is an inherited disease caused by variants of the ALPL gene encoding tissue‐nonspecific alkaline phosphatase. Adult‐onset HPP (adult HPP), known as a mild form of HPP, develops symptoms involving osteomalacia after the age of 18 ...
Naoko Hidaka, Hiroaki Murata, Kanako Tachikawa, Keiichi Osaki, Takashi Sekiyama, Yuka Kinoshita, Hajime Katô, Yoshitomo Hoshino, Soichiro Kimura, Takashi Sunouchi, So Watanabe, Masaomi Nangaku, Noriko Makita, Toshimi Michigami, Nobuaki Ito   +14 more
openalex   +2 more sources

Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group [PDF]

Osteoporosis International, 2023
Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. HPP is caused by pathogenic variants in the ALPL gene, resulting in low activity of tissue nonspecific alkaline phosphatase (TNSALP ...
Eric T. Rush, Maria Luisa Brandi, Aliya Khan, Dalal S. Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Séverine Bacrot, Kathryn Dahir, Karel Dandurand, Chad Deal, Serge Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven Ing, M K Javaid, Sarah Khan, Roland Kocijan, E. Michael Lewiecki, Agnès Linglart, Iman M’Hiri, Francesca Marini, Mark E. Nuñes, Cheryl R. Greenberg, C. Roux, Lothar Seefried, Susan Starling, Leanne M. Ward, Liang Yao, Romina Brignardello‐Petersen, Jill H. Simmons   +31 more
openalex   +2 more sources

Revisiting the Genetics of Hypophosphatasia. [PDF]

J Inherit Metab Dis
Overview of the genetic concepts in hypophosphatasia reviewed in this manuscript. ABSTRACT Hypophosphatasia (HPP) is a rare, inherited monogenic disorder that is typically caused by variants in the tissue‐nonspecific alkaline phosphatase (ALPL) gene.
Kishnani PS, Rehder C, Ozono K, Pérez-López J, Del Angel G, Mowrey WR, Balasubramanian M, Högler W, Rush ET.   +8 more
europepmc   +2 more sources

Decade-long delayed diagnosis of hypophosphatasia until next generation tooth loss: case reports on dental rehabilitation, diagnostic challenges and clinical implications [PDF]

Frontiers in Oral Health
Hypophosphatasia (HPP) is a rare metabolic bone disorder caused by functional mutations in the gene Alkaline Phosphatase, Liver/Bone/Kidney (ALPL), resulting in impaired mineralization of bones and teeth.
Yating Cao, Feng Zhang, Xingxing Huang, Ai Jiang, Shaoyun Jiang, Min Wu   +5 more
doaj   +2 more sources

Compromised Muscle Properties in a Severe Hypophosphatasia Murine Model [PDF]

International Journal of Molecular Sciences, 2023
Hypophosphatasia (HPP) is a rare metabolic bone disorder characterized by low levels of tissue non-specific alkaline phosphatase (TNAP) that causes under-mineralization of the bone, leading to bone deformity and fractures.
Emily G. Pendleton, Anna S. Nichenko, Jennifer McFaline‐Figueroa, Christiana J. Raymond‐Pope, A Schifino, Taylor M. Pigg, Ruth P. Barrow, Sarah M. Greising, Jarrod A. Call, Luke J. Mortensen   +9 more
openalex   +2 more sources

Enzyme replacement therapy for hypophosphatasia—The current paradigm [PDF]

Clinical Endocrinology
Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity.
Aaron Schindeler, Karissa Ludwig, Craig F. Munns   +2 more
openalex   +2 more sources

Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases [PDF]

Clinical Chemistry and Laboratory Medicine, 2023
Objectives Since the prevalence of hypophosphatasia (HPP), a rare genetic disease, seems to be underestimated in clinical practice, in this study, a new diagnostic algorithm to identify missed cases of HPP was developed and implemented.
Trinidad González-Cejudo, Juan Miguel Villa-Suárez, María Ferrer-Millán, Francisco Andújar-Vera, Victoria Contreras-Bolívar, María Carmen Andreo-López, José Gómez-Vida, Luis Martínez-Heredia, Sheila González-Salvatierra, Tomás de Haro Muñoz, Cristina García‐Fontana, Manuel Muñoz‐Torres, Beatriz García-Fontana   +12 more
openalex   +2 more sources