Disease: Hypophosphatasia
- A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels
- A case report of odonto-hypophosphatasia with a novel variant in the <em>ALPL</em> gene
- A case report of odonto-hypophosphatasia with a novel variant in the ALPL gene
- A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States
- A Novel Case of Concomitant PHEX and ALPL Mutation In a Family With Rickets
- A Quantification Method for Disorganized Bone Components: Application to the Femoral Shaft
- A Review of Selected Dental Anomalies With Histologic Features in the Pediatric Patient
- A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the <em>ALPL</em> gene
- A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene
- Acalvaria: the first case report from Nepal
- Advances in Immune Tolerance Induction in Enzyme Replacement Therapy
- Alkaline Phosphatases: Biochemistry, Functions, and Measurement
- ALPL regulates pro-angiogenic capacity of mesenchymal stem cells through ATP-P2X7 axis controlled exosomes secretion
- Asfotase alfa improved skeletal mineralization and fracture healing in a child with MCAHS
- Atypical Femoral Fracture in Hypophosphatasia: A Systematic Review
- Bone Turnover Markers: Basic Biology to Clinical Applications
- Case Report of a 4-Year-Old Girl with Stage IV Grade C Localized Periodontitis (Pre-Puberal Localized Aggressive Periodontitis) Affected by Misrecognition and Late Diagnosis
- Childhood Hypophosphatasia Associated with a Novel Biallelic <em>ALPL</em> Variant at the TNSALP Dimer Interface
- Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface
- Chylous ascites complicating perinatal severe hypophosphatasia in an infant on high-setting ventilation and enzyme replacement therapy
- Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults
- Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
- Clinical Profiles of Children with Hypophosphatasia Prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry
- Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management
- Compromised Muscle Properties in a Severe Hypophosphatasia Murine Model
- Correction: Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
- Could Some Patients With Fibromyalgia Potentially Have Hypophosphatasia? A Retrospective Single-Center Study
- Cranial Neural Crest Specific Deletion of <em>Alpl</em> (TNAP) via P0-Cre Causes Abnormal Chondrocyte Maturation and Deficient Cranial Base Growth
- Craniosynostosis in primary metabolic bone disorders: a single-institution experience
- Current status of <em>N</em>-, <em>O</em>-, <em>S</em>-heterocycles as potential alkaline phosphatase inhibitors: a medicinal chemistry overview
- Cutaneous lesions in the setting of hypophosphatasia
- Dental characteristics of patients with four different types of skeletal dysplasias
- Dental loss, stress fractures, and musculoskeletal pain in a 48-year-old woman
- Detection of hypophosphatasia in hospitalised adults in rheumatology and internal medicine departments: a multicentre study over 10 years
- 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
- Diagnostic and New Therapeutic Approaches to Two Challenging Pediatric Metabolic Bone Disorders: Hypophosphatasia and X-linked Hypophosphatemic Rickets
- Different Dental Manifestations in Sisters with the Same <em>ALPL</em> Gene Mutation: A Report of Two Cases
- Disulfide Bonds Are Not Necessary for Intrinsic TNSALP Activity
- Effect of Asfotase Alfa in the Treatment of Hypophosphatasia- A Systematic Review
- Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
- Effects of asfotase alfa in adults with pediatric-onset hypophosphatasia over 24 months of treatment
- Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review
- First Reported Case of a Pyrophosphate Kidney Stone in a Human
- Gene Therapy Using Recombinant AAV Type 8 Vector Encoding TNAP-D<sub>10</sub> Improves the Skeletal Phenotypes in Murine Models of Osteomalacia
- Genetic profile of a large Spanish cohort with hypercalcemia
- Growth and disease burden in children with hypophosphatasia
- Health-related quality of life and fatigue in adult rare bone disease patients: A cross-sectional study from Austria
- Hereditary dentin defects with systemic diseases
- High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture
- HRAS-related epidermal nevus syndromes: Expansion of the spectrum with first branchial arch defects
- Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
- Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications
- Hypophosphatasia: from birth to adulthood
- Hypophosphatasia: presentation and response to asfotase alfa
- Identifying adult hypophosphatasia in the rheumatology unit
- 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
- Impact of Restricted Phosphorus, Calcium-adjusted Diet on Musculoskeletal and Mental Health in Hypophosphatasia
- Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa
- Improving care pathways for people living with rare bone diseases (RBDs): outcomes from the first RBD Summit
- Joint manifestations revealing inborn metabolic diseases in adults: a narrative review
- Management of Craniosynostosis in Lethal Perinatal Hypophosphatasia
- Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases
- Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia
- 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
- New Empirical Bayes Models to Jointly Analyze Multiple RNA-Sequencing Data in a Hypophosphatasia Disease Study
- Nomogram for predicting early hypophosphatemia in term infants
- Odontohypophosphatasia caused by a novel combination of two heterozygous variants: a case report
- On pathways and blind alleys-The importance of biomarkers in vitamin B<sub>6</sub> -dependent epilepsies
- One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents
- Orodental phenotype and genotype findings in 8 Chinese children with hypophosphatasia
- Persistent hypercalcemia mimicking hypophosphatasia after discontinuation of a ketogenic diet: a case report
- Preclinical rodent models for human bone disease including a focus on cortical bone
- Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice
- Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients
- Proceedings of the 2023 Santa Fe Bone Symposium: Progress and Controversies in the Management of Patients with Skeletal Diseases
- Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group
- Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B(6) metabolism
- Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B<sub>6</sub> metabolism
- Radial HR-pQCT and Finite Element Analysis in HPP Patients are Superior in Identifying Susceptibility to Fracture-Associated Skeletal Affections Compared to DXA and Laboratory Tests
- Rare Causes of Musculoskeletal Pain: Thinking beyond Common Rheumatologic Diseases
- Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology
- Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease
- Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia
- Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports
- Subnormal Serum Liver Enzyme Levels: A Review of Pathophysiology and Clinical Significance
- Systemic effects of hypophosphatasia characterization of two novel variants in the <em>ALPL</em> gene
- Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene
- The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance
- The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion
- The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult-Onset Hypophosphatasia
- The Global ALPL gene variant classification project: Dedicated to deciphering variants
- The impact of enzyme replacement therapy on the oral health manifestations of hypophosphatasia among children: a scoping review
- The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes
- The role of quantitative ultrasound in diagnosing severe bone metabolic diseases in newborns
- The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase
- Transition of young adults with metabolic bone diseases to adult care
- Use of Complementary and Alternative Medicine in Patients with Rare Bone Diseases and Osteoporosis
- What the pediatric endocrinologist needs to know about skeletal dysplasia, a primer
- Zinc and vitamin D deficiency and supplementation in hypophosphatasia patients - A retrospective study
- Τhe story of sclerostin inhibition: the past, the present, and the future