Scientific Publications
The Global ALPL gene variant classification project: Dedicated to deciphering variants
Growth and disease burden in children with hypophosphatasia
Clinical Profiles of Children with Hypophosphatasia prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry
Effects of asfotase alfa in adults with pediatric-onset hypophosphatasia over 24 months of treatment
Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology
Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group
Abstracts from the Second Scientific Meeting of Soft Bones Inc., June 2-4, 2023, Bethesda, MD, USA
Could Some Patients With Fibromyalgia Potentially Have Hypophosphatasia? A Retrospective Single-Center Study
Zinc and vitamin D deficiency and supplementation in hypophosphatasia patients – A retrospective study
Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the frst RBD Summit
Visualization of mineral-targeted alkaline phosphatase binding to sites of calcification in vivo
Radial HR‑pQCT and Finite Element Analysis in HPP Patients are Superior in Identifying Susceptibility to Fracture‑Associated Skeletal Afections Compared to DXA and Laboratory Tests
Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
Osteomalacia Is Not a Single Disease
Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening
Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management
A Bone Histomorphometric Analysis of Hypophosphatasia-related Osteoporosis after Teriparatide Treatment
Disease characteristics, disability, and quality of life in adult HPP patients with muscular symptoms and pain without skeletal manifestations – a cross-sectional analysis from the Global HPP Registry
Physical Activity, Exercise, and Sports in Individuals with Skeletal Dysplasia: What Is Known about Their Benefits?
Mineral tessellation in bone and the stenciling principle for extracellular matrix mineralization
Deletion of the Pyrophosphate Generating Enzyme ENPP1 Rescues Craniofacial Abnormalities in the TNAP−/− Mouse Model of Hypophosphatasia and Reveals FGF23 as a Marker of Phenotype Severity
The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces
Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentation
Dissecting Mutational Allosteric Effects in Alkaline Phosphatases Associated with Different Hypophosphatasia Phenotypes: An Integrative Computational Investigation
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders
Imaging patterns in pediatric hypophosphatasia
Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia
ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia
Generalized Uncoupled Bone Remodeling Associated With Delayed Healing of Fatigue Fractures
Radiological evaluation of pseudofracture after the administration of asfotase alfa in an adult with benign prenatal hypophosphatasia: A case report
Genetic disorders of calcium, phosphorus, and bone homeostasis
Evaluation of alveolar bone hypomineralization in pediatric hypophosphatasia using orthopantomography
Radiological evaluation of pseudofracture after the administration of asfotase alfa in an adult with benign prenatal hypophosphatasia: A case report
A Reference Range for Plasma Levels of Inorganic Pyrophosphate in Children Using the ATP Sulfurylase Method
TNAP as a New Player in Chronic Inflammatory Conditions and Metabolism
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Hypophosphatasia: Vitamin B6 status of affected children and adults
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Asfotase Alfa hypersensitivity: an outpatient 8‑steps desensitization protocol
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Adult hypophosphatasia treated with reduced frequency of teriparatide dosing
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Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia
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Confirming Prior and Identifying Novel Correlates of Acute Calcium Pyrophosphate Crystal Arthritis
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Association of Serum Alkaline Phosphatase with the TG/HDL Ratio and TyG Index in Korean Adults
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Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review
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Cross-sectional analysis: clinical presentation of children with persistently low ALP levels
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What Is Hypophosphatasia? An Overview of This Rare Genetic Disorder
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