JBMR Plus, 2021 Treatment with asfotase alfa has transformed the prognosis of hypophosphatasia in children and improves the bone and muscle signs in adults. The doses used in adults are the same as in children, whereas bone remodeling is different between them.
Michel Laroche +6 more
doaj +1 more source
There’s Something in the Water: An Unusual Case of Hypophosphatasia [PDF]
, 2023 Learning Objectives 1. Explain the mechanism of TNSALP in the pathogenesisof hypophosphatasia and the role of ALPL mutations inthe severity of disease presentation. 2.
Fan, Chris, Wills, Carson
core +2 more sources
Validation of a novel scoring system for changes in skeletal manifestations of hypophosphatasia in newborns, infants, and children: The Radiographic Global Impression of Change scale [PDF]
, 2018 Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase.
Fujita, Kenji P +4 more
core +2 more sources
Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data [PDF]
, 2020 Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset hypophosphatasia (HPP), a rare, inherited, systemic disease causing impaired skeletal mineralization, short stature, and reduced physical function in ...
Martos-Moreno, Gabriel +4 more
core +1 more source
Clinical variability of hypophosphatasia in colombian patients : case reports [PDF]
, 2021 Q4Q4Pacientes con HipofosfatasiaHypophosphatasia (HPP) is a rare inherited disorder characterized by low serum alkaline phosphatase. It affects bone and tooth mineralization, although extra-skeletal manifestations are frequent.
Gonzáles López, Vladimir +5 more
core +1 more source
Characterization of tracheobronchomalacia in infants with hypophosphatasia
Orphanet Journal of Rare Diseases, 2020 Background Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. Effective management of such complications is of key clinical importance.
Raja Padidela +12 more
doaj +1 more source
US Food and Drug Administration Approvals of Drugs and Devices Based on Nonrandomized Clinical Trials: A Systematic Review and Meta-analysis [PDF]
, 2019 IMPORTANCE The size of estimated treatment effects on the basis of which the US Food and Drug Administration (FDA) has approved drugs and devices with data from nonrandomized clinical trials (non-RCTs) remains unknown.OBJECTIVES To determine how often ...
Chalmers, Iain +5 more
core +1 more source
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta [PDF]
, 2016 Prompt and accurate diagnosis of skeletal dysplasias can play a crucial role in ensuring appropriate counseling and management (both antenatal and postnatal).
Bonafe +10 more
core +1 more source
Az alacsony alkalikusfoszfatáz-aktivitás klinikai értékelése és differenciáldiagnosztikája [PDF]
, 2017 Laboratory diagnostics is especially important in the diagnosis of certain diseases. We compared manual measurements results to laboratory normal values. In some cases, these values depend on the gender and age as well.
Fodor, Anna +2 more
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Consideration of quality of life in the health technology assessments of rare disease treatments [PDF]
, 2021 Objectives Challenges with patient-reported outcome (PRO) evidence and health state utility values (HSUVs) in rare diseases exist due to small, heterogeneous populations, lack of disease knowledge and early onset. To better incorporate quality of life (
Drummond, Michael +5 more
core +1 more source