The clinical spectrum of hypophosphatasia (HPP) is broad and variable within families. Along severe infantile forms, adult forms with mild manifestations may be incidentally discovered by the presence of low alkaline phosphatase (ALP) activity in serum. However, it is still unclear whether individuals with persistently low levels of ALP, in the absence of overt manifestations of HPP, have subclinical abnormalities of bone remodeling or bone mass. The aim of this study was to obtain a better understanding of the skeletal phenotype of adults with low ALP by analyzing bone mineral density (BMD), bone microarchitecture (trabecular bone score, TBS), and bone turnover markers (P1NP and ß-crosslaps). We studied 42 individuals with persistently low...
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisatio...
Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in th...
Summary There is limited understanding of how asfotase alfa affects mineral metabolism and bone tur...
Abstract Background Tissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of ...
Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low levels of serum alkalin...
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tiss...
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tiss...
Hypophosphatasia (HPP) is a rare genetic disorder characterized by low serum alkaline phosphatase (A...
[Background]: Low serum levels of alkaline phosphatase (ALP) are a hallmark of hypophosphatasia. How...
Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and te...
Background: Hypophosphatasia (HPP) is an inborn disease caused by pathogenic variants in ALPL. Low l...
Abstract Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phos...
Hypophosphatasia is a rare genetic disease with low tissue nonspeficic alkaline phosphatase activity...
Summary In adult hypophosphatasia (HPP) patients, elevated lumbar spine dual X-ray absorptiometry (...
Objectives This study sought to identify the clinical and biochemical characteristics that would ...
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisatio...
Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in th...
Summary There is limited understanding of how asfotase alfa affects mineral metabolism and bone tur...
Abstract Background Tissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of ...
Hypophosphatasia (HPP) is an inborn error of metabolism characterized by low levels of serum alkalin...
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tiss...
Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tiss...
Hypophosphatasia (HPP) is a rare genetic disorder characterized by low serum alkaline phosphatase (A...
[Background]: Low serum levels of alkaline phosphatase (ALP) are a hallmark of hypophosphatasia. How...
Hypophosphatasia (HPP) is a rare and underdiagnosed condition characterized by deficient bone and te...
Background: Hypophosphatasia (HPP) is an inborn disease caused by pathogenic variants in ALPL. Low l...
Abstract Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phos...
Hypophosphatasia is a rare genetic disease with low tissue nonspeficic alkaline phosphatase activity...
Summary In adult hypophosphatasia (HPP) patients, elevated lumbar spine dual X-ray absorptiometry (...
Objectives This study sought to identify the clinical and biochemical characteristics that would ...
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisatio...
Hypophosphatasia (HPP) is a rare inborn error of metabolism due to a loss-of-function mutation in th...
Summary There is limited understanding of how asfotase alfa affects mineral metabolism and bone tur...