Results 61 to 70 of about 948 (174)

Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

Остеопороз и остеопатии, 2019
Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients.
Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya   +5 more
doaj   +1 more source

Emerging therapies for the treatment of rare pediatric bone disorders

Frontiers in Pediatrics, 2022
In recent years, new therapies for the treatment of rare pediatric bone disorders have emerged, guided by an increasing understanding of the genetic and molecular etiology of these diseases.
Kathryn M. Thrailkill, Evangelia Kalaitzoglou, John L. Fowlkes   +2 more
doaj   +1 more source

Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy [PDF]

, 2018
Objective To investigate the utility of serum pyridoxal 5′-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) as a diagnostic marker of hypophosphatasia (HPP) and an indicator of the effect of, and patient compliance with, enzyme replacement ...
Akiyama, Tomoyuki, Harada, Daisuke, Kitanaka, Sachiko, Kobayashi, Daisuke, Kobayashi, Katsuhiro, Kubota, Takuo, Matsunami, Kunihiro, Michigami, Toshimi, Mitani, Yusuke, Namba, Noriyuki, Noda, Masahiro, Ogawa, Erika, Ozono, Keiichi, Sugiyama, Yuichiro, Suzuki, Atsushi, Takeyari, Shinji, Takishima, Shigeru, Uematsu, Mitsugu, Utoyama, Maiko   +18 more
core   +1 more source

Asfotase alfa restores PLP-dependent GABA, cystathionine, and amino acid metabolism in a mouse model of hypophosphatasia

Neuroscience Research
This study assessed whether asfotase alfa treatment in Akp2-/- mice (a model of hypophosphatasia) reversibly normalizes GABA and cystathionine in brain tissue to concentrations in wild-type mice.
Kathryn N. Phoenix, Andre Marozsan, Susan Liu-Chen, Lizhong Zhang, Amit Mogha, Yan Wong, Catherine A. Brownstein, Raja Padidela   +7 more
doaj   +1 more source

Impact of pediatric hypophosphatasia on behavioral health and quality of life

Orphanet Journal of Rare Diseases, 2021
Background Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase.
Elizabeth I. Pierpont, Jill H. Simmons, Katherine J. Spurlock, Ryan Shanley, Kyriakie M. Sarafoglou   +4 more
doaj   +1 more source

Hypophosphatasia: A Systemic Skeletal Disorder Caused by Alkaline Phosphatase Deficiency [PDF]

, 2017
Hypophosphatasia (HPP) is an inherited systemic bone disease caused by the deficiency of tissue-nonspecific alkaline phosphatase (TNAP). HPP is classified into six forms and the symptoms of HPP vary depending on the form.
Orimo, Hideo
core   +2 more sources

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

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +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