Bilateral healing of pseudofractures in hypophosphatasia with teriparatide: a case report.

[Recent advances in the diagnosis and management of childhood hypophosphatasia].

NEFL is associated with inhibition of odontoblastic process in odontohypophosphatasia.

Lentivirus-based HPSC therapy provides effective and long-term treatment in hypophosphatasia mouse model.

Hypophosphatasia in Neonatal Twins With Generalized Skeletal Hypomineralisation.

Deficiency of Tissue Nonspecific Alkaline Phosphatase Dysregulates Microglial Morphology and Function in a Mouse Model of Infantile Hypophosphatasia.

External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort.

The Importance of Biochemical Screenings in the Diagnosis of Hypophosphatasia: Applications, Methodologies, and Challenges.

Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

Genetic Hypophosphatasia as a Cause of Recurrent Stress Fractures in a Female Runner.

Persistently Low Alkaline Phosphatase in Fibromyalgia: Hypophosphatasia or Confounding Clinical Context?

Screening and patient exploration for adult hypophosphatasia in orthopedics.

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.

Heritable metabolic bone disorders: a guide to current genetic testing and clinical management for adult endocrinologists.

Modeling rare genetic skeletal disorders with bone organoids: a narrative review.

Hypophosphatasia: who among us is a carrier?

Hypophosphatasia in children: From low alkaline phosphatase activity to diagnosis, genetic testing, and treatment options. A narrative review.

Impact of clinical symptoms on quality of life in adult hypophosphatasia: a monocentric study in northern Germany.

Change in fracture rate and healthcare resource utilization among patients with hypophosphatasia following initiation of asfotase alfa: a retrospective US claims database analysis.

Atypical Fracture From Bisphosphonate Use in Hypophosphatasia With Improved Bone Response to Teriparatide Therapy.

Alpl ablation in dental epithelium disrupts ameloblasts and incisor enamel mineralization in male mice.

Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP.

Hypophosphatasia: 90 Years from a Canadian Discovery-A Comprehensive Review of the ALPL Gene Underlying Rathbun's Syndrome.

Six cases of ENPP1 pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy.

A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasia.

Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and Controversies.

Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations.

Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.

The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data.

When the diagnosis misses the mark: The psychiatric cost of misdiagnosing hypophosphatasia as fibromyalgia.

Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository.

Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia.

Clinical features of low serum alkaline phosphatase levels in children: A retrospective study.

The Clinical Spectrum of Hypophosphatasia in Older Adults.

Novel Insights From In Silico Analysis of Biallelic ALPL (c.1001G/A and c.571G/A) in Two Mennonite Families Leading to Hypophosphatasia.

Identification of rare genetic variants in familial forms and unrelated cases of bisphosphonates-associated atypical femur fracture.

Enpp1 inhibition: a promising oral therapy for later-onset hypophosphatasia.

Neonatal hypophosphatasia: a case report of a rare genetic disorder.

Proceedings of the 2025 Santa Fe Bone Symposium: Current concepts in the care of patients with osteoporosis, parathyroid disorders, and rare bone diseases.

Bridging the knowledge gap in rare bone disorders: insights from the APCO Asia-Pacific Rare Bone Disorders Engagement (ASPIRE) survey.

Hypophosphatasia and Type 1 Diabetes: A Pilot Study and Review of Literature.

Hypophosphatasia-pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments.

ENPP1 inhibition as a therapeutic approach for later-onset hypophosphatasia.

Biochemical and Demographical Differences in Atypical vs. Typical Femoral Fractures: A 10-Year Experience Across Two Centers.

Revisiting the Genetics of Hypophosphatasia.

Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.

The Challenge of Hypophosphatasia Diagnosis in Patients with Fibromyalgia.

Adult Hypophosphatasia in a Middle-Aged Patient With Recurrent Fractures: Prevention of New Fractures With Asfotase Alfa.

A novel dominant negative variant of ALPL induces hypophosphatasia.

Corrigendum to "Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series" [Bone Rep. 26 (2025) 1-6 (101857)].

AI-assisted phenotyping in a zebrafish hypophosphatasia model enables early and precise detection of skeletal alterations.

Periodontal Manifestations of Systemic Diseases.

Involvement of impaired phosphate production and aberrant extracellular ATP signaling in the pathogenesis of hypophosphatasia: Analysis of ALPL-Knockout human iPS cell models.

Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.

Pathophysiology of Femoral Fractures in Hypophosphatasia.

Lifetime follow-up of an adult patient with pediatric-onset hypophosphatasia complicated with advanced chronic kidney disease.

Modulation of TNAP activity and apatite formation in biomimetic matrix vesicles studied by 31P solid-state NMR.

Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia.

Influence of Vitamin D Level on Oral Health Status in Adult Hypophosphatasia.

[Delayed bone healing after osteotomy - what the family history revealed].

Decade-long delayed diagnosis of hypophosphatasia until next generation tooth loss: case reports on dental rehabilitation, diagnostic challenges and clinical implications.

Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series.

Hypophosphatasia: A case report.

Key Learnings from Clinical Research and Real-World Evidence on Asfotase Alfa Effectiveness in Hypophosphatasia: 10 Years Post-Approval.

Case series demonstrating the effectiveness of Zn supplements in adults with hypophosphatasia who were overlooked for a long time.

Clinical characterization and impact of hypophosphatasia in Spain: An observational analysis of the Spanish cohort included in the Global HPP Registry.

Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of ALPL gene variants.

Improvements in Bone Disorganization and Pseudo-Fracture Healing in Hypophosphatasia Following Asfotase Alfa Therapy May Be Detectable by the ALIGNOGRAM Before Changes in Bone Radiography or Scintigraphy.

Hypophosphatasia in childhood: Diagnosis to management.

Asfotase alfa restores PLP-dependent GABA, cystathionine, and amino acid metabolism in a mouse model of hypophosphatasia.

Generation of a new human iPSC cell line (UOMi010-A) from a patient with hypophosphatasia.

Reprogramming of peripheral blood mononuclear cells from a patient with hypophosphatasia to generate iPSC line (UOMi011-A).

Alkaline Phosphatase as a Potential Biomarker of Muscle Function: A Pilot Study in Patients with Hypophosphatasia.

Hypophosphatasia and neuropathic pain: related to vitamin B6 metabolism?

Osteogenesis imperfecta, diffuse idiopathic skeletal hyperostosis, and hypophosphatasia: one year in review 2025.

Case Report: Suboptimal response to standard-dose asfotase alfa in perinatal hypophosphatasia indicates a need for individualized dosing.

Identification of a Novel Compound Heterozygous Variant in the ALPL Gene Linked to Hypophosphatasia in a Chinese Family.

Differential Pregnancy Decisions in a Woman With a Recurrent Prenatal Diagnosis of Hypophosphatasia.

Clinical presentation of adults with persistently low alkaline phosphatase activity: a retrospective multicentre, cross-sectional study in Germany.

Differential diagnosis of heritable and acquired osteomalacia in children: biochemical and biomaterial signatures.

Vitamin B6 challenge as a tool for detecting ALPL mutations and diagnosing hypophosphatasia.

Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia.

Correlations between 6-minute walk test, chair-rise test, and lower extremity functional scale among patients with hypophosphatasia.

Mobility and Quality of Life in Children with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement.

Phenotypic and Genotypic Spectrum of Indian Patients with Hypophosphatasia.

Markedly discordant hypophosphatasia in a young girl.

Dentoalveolar defects and impaired alveolar bone healing in a neural crest directed conditional knockout mouse model of hypophosphatasia.

Inadequate pediatric reference ranges impede the diagnosis of X-linked hypophosphatemia and hypophosphatasia in Austria.

Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy.

The ALPL gene variant project: results of the first 100 reclassified variants.

Depot medroxyprogesterone acetate (DMPA)-associated early-onset osteoporotic fracture.

Grading Pseudo Fractures.

EULAR/American College of Rheumatology Classification Criteria for Pediatric Chronic Nonbacterial Osteomyelitis.

Calcium isotope ratio in patients with monogenic bone diseases: a prospective, cross-sectional, single-center pilot study.

Hypophosphatasia: Clinical Clues and Management Considerations.

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

Grading Pseudofractures-The "Breach-Beak-Bump-Bridge" Approach.

Severe Hypercalcemia Associated With Perinatal Hypophosphatasia While Receiving Enzyme Replacement Therapy.

Family mapping of previously identified patients with pathogenic or likely pathogenic ALPL variants using predictive genotyping and detailed phenotyping approach: the FAME case-control study.

Flexible Screen-Printed Electrochemical Sensor for Alkaline Phosphatase Detection in Biofluids for Biomedical Applications.

Hard evidence of soft teeth: the oral symptoms of hypophosphatasia.

Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities.

Effects of asfotase alfa on fracture healing of adult patient with hypophosphatasia and literature review.

Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement.

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.

Effectiveness and safety of asfotase alfa for people with hypophosphatasia: a plain language summary of three studies.

Medical Management of Hypophosphatasia: Review of Data on Asfotase Alfa.

Hypophosphatasia: the importance of knowing in advance.

Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child.

Diagnosis and Treatment of Hypophosphatasia.

Diagnostic Approach to Abnormal Alkaline Phosphatase Value.

How does overweight affect bone mineral density and oral health in adult hypophosphatasia?- A single center experience.

Japanese nationwide dental survey of hypophosphatasia reveals novel oral manifestations.

Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States.

[Rare osteological diseases in the rheumatological consultation: hypophosphatasia and phosphate loss syndromes].

EULAR/ACR classification criteria for paediatric chronic nonbacterial osteomyelitis (CNO).

Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry.

Case Report: A Diagnostic Challenge in Adult-Onset Hypophosphatasia With Persistent Polyarthralgia.

Circulating Micro-RNAs in Patients With Hypophosphatasia: Results of the First Micro-RNA Analysis in HPP.

High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the ALPL c.1559del Gene Variant.

Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.

Infantile hypophosphatasia: a rare aetiology of recurrent pneumonia.

Dental Management of Genetic Dental Disorders: A Critical Review.

Understanding the structural biology of osteomalacia through multiscale 3D X-ray and electron tomographic imaging: a review of X-linked hypophosphatemia, the Hyp mouse model, and imaging methods.

Novel therapeutic options for hypophosphatasia.

Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature.

Severe hypoplastic enamel as a primary manifestation of hypophosphatasia: A case report.

Dental manifestations of hypophosphatasia: translational and clinical advances.

Adult hypophosphatasia presenting with recurrent acute joint pain.

Fabrication of Hard Tissue Constructs from Induced Pluripotent Stem Cells for Exploring Mechanisms of Hereditary Tooth/Skeletal Dysplasia.

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage.

Proceedings of the 2024 Santa Fe Bone Symposium: Update on the Management of Osteoporosis and Rare Bone Diseases.

Preclinical evaluation of the efficacy and safety of adeno-associated virus 8-tissue-nonspecific alkaline phosphatase-D10 in Alpl-/- and AlplPrx1/Prx1 mouse models for the treatment of early and late-onset hypophosphatasia.

Administration of Bisphosphonate Preparations to Mice with Mild-type Hypophosphatasia Reduces the Quality of Spontaneous Locomotor Activity.

Special Collection on Rare Musculoskeletal Diseases 2024.

Raman Spectroscopic Analysis of Molecular Structure and Mechanical Properties of Hypophosphatasia Primary Tooth.

Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report.

Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider-Retrospective Analyses over Fifteen Years.

Clinical Characteristics of Persistent Hypophosphatasemia Uncovered in Adult Patients: A Retrospective Study at a Japanese Tertiary Hospital.

Spatial polarimetric second harmonic generation evaluation of collagen in a hypophosphatasia mouse model.

Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

Disproportionality analysis of adverse events associated with asfotase alfa: a post-marketing study using the FDA Adverse Event Reporting System.

A case study of hypophosphatasia: An underdiagnosed bone disorder characterized by low alkaline phosphatase.

Metabolic Bone Disease: An Overview.

The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.

Pain, quality of life, and integral management in a cohort of patients diagnosed with hypophosphatasia in Colombia.

Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia.

Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic ALPL study.

Oro-Dental Characteristics in Patients With Adult-Onset Hypophosphatasia Compared to a Healthy Control Group-A Case-Control Study.

Ultrastructural evaluation of adverse effects on dentine formation from systemic fluoride application in an experimental mouse model.

Tissue nonspecific alkaline phosphatase deficiency impairs Purkinje cell development and survival in a mouse model of infantile hypophosphatasia.

Biology of bone mineralization and ectopic calcifications: the same actors for different plays.

Inactivation of spermine synthase in mice causes osteopenia due to reduced osteoblast activity.

Genetic disorders and their association with morbidity and mortality in early preterm small for gestational age infants.

Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants.

Longitudinal course of circulating miRNAs in a patient with hypophosphatasia and asfotase alfa treatment: a case report.

Rare diseases: a challenge in paediatric dentistry.

One Year Follow-Up of a 4-Year-Old Caucasian Girl Diagnosed with Stage IV Grade C Localized Periodontitis.

Idiopathic juvenile osteoporosis-a polygenic disorder?

Safety, pharmacokinetics, and pharmacodynamics of efzimfotase alfa, a second-generation enzyme replacement therapy: phase 1, dose-escalation study in adults with hypophosphatasia.

Inherited phosphate and pyrophosphate disorders: New insights and novel therapies changing the oral health landscape.

Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up.

Calcium Pyrophosphate Crystal Deposition: Insights to Risks Factors and Associated Conditions.

Diffusion tensor imaging shows increased physis organization after growth hormone initiation in hypophosphatasia.

Monoclonal antibody anti-sclerostin for treatment of pelvic insufficiency fractures in adult hypophosphatasia: A case report.

First reported magnesium pyrophosphate kidney stone prompts diagnosis of hypophosphatasia.

Efficacy and safety of asfotase alfa in patients with hypophosphatasia: A systematic review.

Calcium pyrophosphate deposition disease.

Integrated Applied Clinical Pharmacology in the Advancement of Rare and Ultra-Rare Disease Therapeutics.

Skeletal indicators of pathology in the context of early tooth loss in children: A systematic literature review.

A probable case of hypophosphatasia in St Bride's Lower Churchyard (1770-1849, London, UK).

Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures.

Enzyme replacement therapy for hypophosphatasia-The current paradigm.

Role of PLP-Level as a predictive marker for oral health status in adult hypophosphatasia.

Latent metabolic bone disease, skeletal dysplasia and other conditions related to low bone formation among 38 patients with subtrochanteric femoral fractures: a retrospective observational study.

Nutritional Behavior of Patients with Bone Diseases: A Cross-Sectional Study from Austria.

Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.

Pediatric hypophosphatasia: avoid diagnosis missteps!

Hypoalkaline Phosphatemia Dental Type: A Case Report.

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.

Patient-derived reference intervals for alkaline phosphatase to support appropriate utility for isoenzymes determinations and hypophosphatasia.

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.

Diagnosis and treatment of adult hypophosphatasia: Still a big challenge?

New Empirical Bayes Models to Jointly Analyze Multiple RNA-Sequencing Data in a Hypophosphatasia Disease Study.

Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications.

Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.

Subnormal Serum Liver Enzyme Levels: A Review of Pathophysiology and Clinical Significance.

Nomogram for predicting early hypophosphatemia in term infants.

ALPL regulates pro-angiogenic capacity of mesenchymal stem cells through ATP-P2X7 axis controlled exosomes secretion.

Diagnosis and initial management of children presenting with premature loss of primary teeth associated with a systemic condition: A scoping review and development of clinical aid.

Genetic profile of a large Spanish cohort with hypercalcemia.

Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years.

Use of Complementary and Alternative Medicine in Patients with Rare Bone Diseases and Osteoporosis.

A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels.

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.