Results 61 to 70 of about 714 (150)

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children

Orphanet Journal of Rare Diseases, 2020
Background Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436).
Marius Vogt, Hermann Girschick, Tilmann Schweitzer, Clemens Benoit, Annette Holl-Wieden, Lothar Seefried, Franz Jakob, Christine Hofmann   +7 more
doaj   +1 more source

Bilateral atypical femoral fractures during denosumab therapy in a patient with adult-onset hypophosphatasia

Endocrinology, Diabetes & Metabolism Case Reports, 2021
Hypophosphatasia (HPP) is a rare and under-recognised genetic defect in bone mineralisation. Patients presenting with fragility fractures may be mistakenly diagnosed as having osteoporosis and prescribed antiresorptive therapy, a treatment which may ...
Annabelle M Warren, Peter R Ebeling, Vivian Grill, Ego Seeman, Shoshana Sztal-Mazer   +4 more
doaj   +1 more source

Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia, Vincent J. Carson, D. Holmes Morton, Karin J. Blakemore, Mark I. Evans, Peter B. Crino   +5 more
wiley   +1 more source

Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X‐Linked Hypophosphatemia in Mice

Journal of Periodontal Research, Volume 61, Issue 3, Page 309-322, March 2026.
Effects of exogenous tissue‐nonspecific alkaline phosphatase (TNAP) were analyzed in the Hyp mouse model of X‐linked hypophosphatemia (XLH). Maxillary first molars were extracted from wild‐type (WT) and Hyp mice at 6 weeks, and collagen gel ± TNAP was placed in sockets. In one group of Hyp mice, submucosal injections of TNAP or saline were delivered at
Aonjittra Phanrungsuwan, Bella Donnelly, José Luis Millán, Brian L. Foster   +3 more
wiley   +1 more source

Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficient tissue‐nonspecific alkaline phosphatase (ALP) activity and characterized by skeletal and nonskeletal symptoms, including muscle weakness and fatigue. We hypothesized that mitochondrial respiration is impaired in muscle in HPP, independent of skeletal manifestations ...
Denise Devore, Juan Ruanova, Walter Voegtli, Derek Dunn, John Decker, Maurizio Mazzantini, Vincenzo De Tata, Maria Concetta Scavuzzo, Francesco Conti, Anna Petryk, Maria Luisa Brandi   +10 more
wiley   +1 more source

ALPL Mutations With Dominant‐Negative Effect in Infantile Hypophosphatasia Monozygotic Twins

Human Mutation, Volume 2026, Issue 1, 2026.
Background and Aims Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by ALPL gene mutations, resulting in deficient tissue‐nonspecific alkaline phosphatase (ALP) activity. We investigated genotype–phenotype correlations in a monozygotic female twin pair with infantile HPP.
Luna Hao, Na Huang, Yilun Tao, Hui Li, Juyu Zhuang, Xiaoyun Li, Zekun Hao, Feng Zhao, Harleen Khatra   +8 more
wiley   +1 more source

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy

JCRPE, 2019
Hypophosphatasia (HPP) is a rare disease caused by mutations in the ALPL gene encoding tissue-non-specific isoenzyme of alkaline phosphatase (TNSALP). Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown
Bülent Hacıhamdioğlu, Gamze Özgürhan, Catarina Pereira, Emre Tepeli, Gülşen Acar, Serdar Cömert   +5 more
doaj   +1 more source

Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations

Bone Reports, 2022
Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP.
Hiroshi Kitoh, Masako Izawa, Hiroshi Kaneko, Akiko Kitamura, Saori Matsuyama, Kohji Kato, Tomoo Ogi   +6 more
doaj   +1 more source

The Clinical Spectrum of Hypophosphatasia in Older Adults

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Alkaline phosphatase (ALP) should be measured in older adults presenting with fragility fractures. Hypophosphatasia (HPP) should be suspected in individuals with hypophosphatasemia (low serum ALP). A correct diagnosis allows clinicians to avoid using potent antiresorptive osteoporosis medications, which are contraindicated in patients with HPP.
Estefania Valdez Navarro, Evelyn M. Wong, Lianne Tile, Angela M. Cheung   +3 more
wiley   +1 more source

PMDA Perspective on Use of Real‐World Data and Real‐World Evidence as an External Control: Recent Examples and Considerations

Clinical Pharmacology &Therapeutics, Volume 117, Issue 4, Page 910-919, April 2025.
Recent discussions about the utilization of real‐world data (RWD) and real‐world evidence (RWE) have been more focused on drug development for regulatory approval rather than during the post‐marketing stage. In Japan, RWD/RWE have been practically utilized as an external control for drug approval.
Junichi Asano, Hiromi Sugano, Hiroyuki Murakami, Atsushi Noguchi, Yuki Ando, Yoshiaki Uyama   +5 more
wiley   +1 more source