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The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
Hypophosphatasia (HPP) is a rare genetic disorder in which pathogenic variants of the ALPL gene lead to a marked decrease of tissue non-specific...
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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...
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Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family
IntroductionHypophosphatasia (HPP) is caused by mutations in the ALPL gene encoding tissue nonspecific alkaline phosphatase (TNSALP) and inherited...
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The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance
Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent activity of the tissue non-specific alkaline phosphatase (TNSALP)...
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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...
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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...
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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...
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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...
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The effect of ALPL gene polymorphism on the development of urolithiasis in the Turkish population
Urinary system stones have a complex pathophysiology affected by environmental and genetic factors. To confirm whether ALPL gene polymorphisms are an...
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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...
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A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia
SummaryUsing genetic, clinical, biochemical, and radiographic assessment and bioinformatic approaches, we present an unusual case of adult HPP caused...
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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...
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Bone turnover and mineral metabolism in adult patients with hypophosphatasia treated with asfotase alfa
SummaryThere is limited understanding of how asfotase alfa affects mineral metabolism and bone turnover in adults with pediatric-onset...
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Treatment of hypophosphatasia
Hypophosphatasia (HPP) is a rare disorder with perinatal, infantile, childhood, and adult presentations. Severe forms are autosomal recessive with an...
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Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review
ObjectiveHypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL g ene that encodes the...
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Massive calcification around large joints in a patient subsequently diagnosed with adult-onset hypophosphatasia
We report a 64-year-old Japanese woman with a history of progressive loss of motor function and painful swelling of large joints. At the age of 54,...
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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...
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A low serum alkaline phosphatase may signal hypophosphatasia in osteoporosis clinic patients
SummaryLow serum alkaline phosphatase (ALP) was found in 9% of patients attending an osteoporosis clinic, 0.6% of hospital patients, and 2/22 with an...
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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...
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Identifying adult hypophosphatasia in the rheumatology unit
BackgroundThe most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation...
