Results 41 to 50 of about 6,701 (243)
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
Genetic Risk Factors for Atypical Femoral Fractures (AFFs): A Systematic Review [PDF]
, 2018 Atypical femoral fractures (AFFs) are uncommon and have been associated particularly with long-term antiresorptive therapy, including bisphosphonates. Although the pathogenesis of AFFs is unknown, their identification in bisphosphonate-naïve individuals ...
Ebeling, P. (Peter) +5 more
core +2 more sources
Myopathy with hypophosphatasia. [PDF]
Archives of Disease in Childhood, 1990 Three children with hypophosphatasia also had muscle pains, stiffness, and symptoms of proximal lower limb muscle weakness that occurred early in the disorder and were the presenting features in two. A non-progressive myopathy may be an important sign of hypophosphatasia.
J C Haworth +3 more
openaire +3 more sources
Childhood hypophosphatasia: to treat or not to treat
Orphanet Journal of Rare Diseases, 2018 Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the
Eric T. Rush
doaj +1 more source
Dental manifestations in adult hypophosphatasia and their correlation with biomarkers
JIMD Reports, 2022 Hypophosphatasia (HPP) is a genetic condition with broad clinical manifestations caused by alkaline phosphatase (ALP) deficiency. Adults with HPP exhibit a wide spectrum of signs and symptoms.
Priya Sinha +4 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
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
Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. [PDF]
, 2014 Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA). Slc4a4 encodes the electrogenic sodium base transporter NBCe1 that is involved in transcellular base transport and pH regulation during amelogenesis.
Kurtz, Ira, Paine, Michael L, Wen, Xin
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Diagnostic approach to patients with low serum alkaline phosphatase [PDF]
, 2023 Increased serum levels of alkaline phosphatase (ALP) are widely recognized as a biochemical marker of many disorders afecting the liver or bone. However, the approach for patients with low ALP phosphatase is not well-established.
Riancho Moral, José Antonio
core +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