Scientific Publications

Scientific Publications

Could Some Patients With Fibromyalgia Potentially Have Hypophosphatasia?

A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels

Impact of Restricted Phosphorus, Calcium-adjusted Diet on Musculoskeletal and Mental Health in Hypophosphatasia

Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia

Atypical Femoral Fracture in Hypophosphatasia – A Systematic Review

Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

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

Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases

Treatment of hypophosphatasia

THU459 Hypophosphatasia With Normal ALPL Gene Test; A Case Report

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

Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl Gene

The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion

Hypophosphatasia: from birth to adulthood

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

Mineral Intake and Clinical Symptoms in Adult Patients with Hypophosphatasia

A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia

Proposing a clinical algorithm for better diagnosis of hypophosphatasia in resource-limiting situations

Dental manifestations in adult hypophosphatasia and their correlation with biomarkers

Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults

Association of human gut microbiota with rare diseases: A close peep through

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

Not Your Typical Bisphosphonate Intolerance: A Case of Unusual Bone Pain With Low Alkaline Phosphatase

Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review

Genetic Disorders of Calcium and Phosphorus Metabolism

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

Hypophosphatasia: An Underappreciated Cause of Atraumatic Stress Fractures

Screening for hypophosphatasia: does biochemistry lead the way?

Altered Thyroid Function Tests Observed in Hypophosphatasia Patients Treated with Asfotase Alfa