Results 31 to 40 of about 2,799 (170)
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
An Unusual Stress Fracture in an Archer with Hypophosphatasia
Case Reports in Orthopedics, 2013 We report a 45-year-old male archer with stress fracture in his left ulna on the background of adult type of hypophosphatasia. The patient presented to several medical centers for pain around the left elbow and received medical treatment upon diagnosis ...
Umut Yavuz +6 more
doaj +1 more source
Transition of young adults with metabolic bone diseases to adult care
Frontiers in Endocrinology, 2023 As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan.
Jordan Ross +5 more
doaj +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
Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia
Frontiers in Genetics, 2021 Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization.
Qiang Zhang +7 more
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
A rare mutation in hypophosphatasia: a case report of adult form and review of the literature
Archives of Endocrinology and MetabolismSUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular
Francisco Galeano-Valle +2 more
doaj +1 more source
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
Acta Paediatrica, EarlyView.ABSTRACT Aims To investigate the association between serum ALP levels and the development of AKI in paediatric patients with sepsis. Methods Retrospective screening of a computerized database of 4 Israeli regional hospitals for children (0–18 years) hospitalized between 1.01.2000–1.06.2024 with ICD‐9 sepsis‐related diagnoses (study group) and age‐ and ...
Evgenia Gurevich +5 more
wiley +1 more source
Diagnostics, 2022 Hypophosphatasia (HPP) is a rare, and usually diagnosed with delay, genetic disease caused by a mutation in the alkaline phosphatase liver/bone/kidney type (ALPL) gene.
Izabela Michałus +3 more
doaj +1 more source