Search
Search Results
-
Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report
Hypophosphatasia (HPP) is caused by mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene in an autosomal recessive or dominant...
-
Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
SummaryWe analyzed polymorphism of the ALPL gene in patients with low serum levels of tissue-nonspecific alkaline phosphatase (TNAP). The presence...
-
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
BackgroundTissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of particular importance for bone mineralization. Mutation in...
-
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
BackgroundThis manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia...
-
Expression analysis of zinc-metabolizing enzymes in the saliva as a new method of evaluating zinc content in the body: two case reports and a review of the literature
BackgroundThe activity level of alkaline phosphatase, a zinc-requiring enzyme in the serum, is used to indicate zinc nutritional status; however, it...
-
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group
Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. HPP is caused by pathogenic...
-
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
BackgroundHypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults...
-
Imaging patterns in pediatric hypophosphatasia
Hypophosphatasia is a rare genetic disorder of calcium and phosphate metabolism due to ALPL gene mutations, which leads to abnormal mineralization of...
-
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report
BackgroundHypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL . Clinically,...
-
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant
IntroductionHypophosphatasia (HPP) is a rare inherited disorder, caused by mutations in the alkaline phosphatase ( ALPL) gene, which encodes for the...
-
Serum alkaline phosphatase is elevated and inversely correlated with cognitive functions in subjective cognitive decline: results from the ReGAl 2.0 project
BackgroundAlkaline phosphatase has been found on neuronal membranes and plasma alkaline phosphatase (ALP) activity increases during brain injury and...
-
Development and validation of a predictive model for poor prognosis of communication disorders in children with cerebral palsy after cervical perivascular sympathectomy
Cervical perivascular sympathectomy (CPVS) can improve communication disorders in children with cerebral palsy (CP); however, there are no research...
-
Osteoporosis: Investigations and Monitoring
Background:Osteoporosis is characterized by microarchitectural disruption of the bone, decrease in bone mineral density, and increased skeletal...
-
Proposing a clinical algorithm for better diagnosis of hypophosphatasia in resource-limiting situations
Mini abstractEarly diagnosis of hypophosphatasia (HPP) is challenging. Here, we propose to broaden the diagnostic criteria of HPP by reviewing...
-
Tubulointerstitial nephritis with IgG4-positive plasma cell infiltration and tertiary lymphoid tissue in a patient with cryoglobulinemic vasculitis: a case report
Tertiary lymphoid tissue (TLT) develops at sites of chronic immune stimulation, including infection, autoimmune disease, transplant rejection, and...
-
Syndesmophyte Growth in Ankylosing Spondylitis: from Laboratory to Bedside
Purpose of ReviewThis study aims to review recent studies on risk factors for syndesmophyte growth in ankylosing spondylitis (AS) and on treatment...
-
Predictive modeling of hypophosphatasia based on a case series of adult patients with persistent hypophosphatasemia
SummaryApproximately half of individuals with hypophosphatasemia (low levels of serum alkaline phosphatase) have hypophosphatasia, a rare genetic...
-
Oxidative stress biomarkers status in selected equine sports
Oxidative stress is an imbalance between oxidants and antioxidants. Chronic exercise can lead to an increase in the production of oxidants and the...
-
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia
BackgroundHypophosphatasia (HPP) is a rare inherited metabolic disorder caused by mutations in the ALPL gene, which encodes tissue nonspecific...
-
Hypophosphatasia: presentation and response to asfotase alfa
SummaryHypophosphatasia (HPP) is a rare bone disease with limited scientific evidence on the tolerability and safety of its novel treatment, Asfotase...