Results 61 to 70 of about 937 (188)

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

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

Fracture Healing in Two Adult Patients With Hypophosphatasia After Asfotase Alfa Therapy. [PDF]

JBMR Plus, 2018
ABSTRACTInfants and children with hypophosphatasia (HPP) treated with asfotase alfa show improvement in bone mineralization and motor function, but it is unclear whether the medication can affect fracture healing in adult HPP patients. We present the course of fracture healing in two adults with HPP on enzyme replacement. Case 1 is a 41‐year‐old female
Klidaras P, Severt J, Aggers D, Payne J, Miller PD, Ing SW.   +5 more
europepmc   +4 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

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

Journal of Periodontal Research, EarlyView.
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

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

Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations

Orphanet Journal of Rare Diseases, 2018
Background Hypophosphatasia (HPP) is a rare, heterogeneous disease caused by low tissue-nonspecific alkaline phosphatase activity and associated with a range of signs and symptoms, including bone mineralization defects, respiratory problems, seizures ...
Anjali B. Daniel, Vrinda Saraff, Nick J. Shaw, Robert Yates, M. Zulf Mughal, Raja Padidela   +5 more
doaj   +1 more source