Results 61 to 70 of about 9,342 (275)
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
Atypical Femoral Fracture in Hypophosphatasia: A Systematic Review
International Journal of Endocrinology, 2023 Objective To summarize the characteristics of all reported patients with hypophosphatasia (HPP) who sustained atypical femoral fracture (AFF) and identify all available evidence to quantify the rate of coexistence between HPP and AFF. Methods Potentially
N. Charoenngam +6 more
semanticscholar +1 more source
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia
JIMD Reports, 2021 Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth.
Olivia Sarah Strandbech +2 more
doaj +1 more source
Medical Management of Hypophosphatasia: Review of Data on Asfotase Alfa
Current Osteoporosis ReportsHypophosphatasia (HPP) is a rare, dento-osseous disorder caused by impaired activity of tissue non-specific alkaline phosphatase (TNSALP), a key enzyme in tissue mineralization. This review provides a clinical perspective on the current medical treatment
K. Dahir, Nancy S Dunbar
semanticscholar +1 more source
Osteoporosis International, 2023 Objectives Hypophosphatasia (HPP) is a rare genetic metabolic bone disease that can cause chronic pain and fractures. Its hallmark is a persistently low serum ALP.
M. Rauf, J. Kotecha, K. Moss
semanticscholar +1 more source
Frontiers in Dental Medicine, 2022 Mineralization of the skeleton occurs by several physicochemical and biochemical processes and mechanisms that facilitate the deposition of hydroxyapatite (HA) in specific areas of the extracellular matrix (ECM). Two key phosphatases, phosphatase, orphan
Fatma F. Mohamed +6 more
doaj +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
core +2 more sources
Perinatal Hypophosphatasia in a Premature Infant
American Journal of Perinatology Reports, 2020 A premature male infant was delivered at 32 weeks' gestation due to category-2 fetal tracing after preterm labor. The physical exam showed shortened and bowed long bones, with calvarium felt in small area of the head.
Deepika Sankaran +2 more
doaj +1 more source
Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation [PDF]
Neonatal Medicine, 2020 Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day.
Seung Jae Lee +2 more
doaj +1 more source
Advances in TherapyHypophosphatasia (HPP) is a rare disease caused by deficient tissue–non-specific alkaline phosphatase (ALP) activity. Asfotase alfa is a tissue–non-specific ALP enzyme-replacement therapy which was reimbursed in the UK under a Managed Access Agreement ...
Katie E Moss +9 more
semanticscholar +1 more source