Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management

Growth and disease burden in children with hypophosphatasia

(2023) Wolfgang Högler et al.   Endocrine Connections

A new perspective on the function of Tissue Non-Specific Alkaline Phosphatase: from bone mineralization to intra-cellular lipid accumulation

(2022) Cara-Lesley Bartlett et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Skeletal and extraskeletal disorders of biomineralization

(2022) Michael T. Collins et al.   Nature Reviews Endocrinology

Early‐onset osteoporosis: Rare monogenic forms elucidate the complexity of disease pathogenesis beyond type I collagen

(2022) Alice Costantini et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

(2022) Kathryn M. Dahir et al.   Orphanet Journal of Rare Diseases

Accelerated mineralization kinetics in children with osteogenesis imperfecta type 1

(2022) Barbara M. Misof et al.   BONE

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia

(2021) Raja Padidela et al.   CALCIFIED TISSUE INTERNATIONAL

Quantitative Backscattered Electron Imaging of Bone Using a Thermionic or a Field Emission Electron Source

(2021) Markus A. Hartmann et al.   CALCIFIED TISSUE INTERNATIONAL

Osteogenesis Imperfecta: Mechanisms and signaling pathways connecting classical and rare OI types

(2021) Milena Jovanovic et al.   ENDOCRINE REVIEWS

Increased Osteocyte Lacunae Density in the Hypermineralized Bone Matrix of Children with Osteogenesis Imperfecta Type I

(2021) Matthias Mähr et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Modification of COL1A1 in Autologous Adipose Tissue‐Derived Progenitor Cells Rescues the Bone Phenotype in a Mouse Model of Osteogenesis Imperfecta

(2021) Yi Liu et al.   JOURNAL OF BONE AND MINERAL RESEARCH

3D Interrelationship between Osteocyte Network and Forming Mineral during Human Bone Remodeling

(2021) Mahdi Ayoubi et al.   Advanced Healthcare Materials

RANKL from bone marrow adipose lineage cells promotes osteoclast formation and bone loss

(2021) Yan Hu et al.   EMBO REPORTS

TNAP: A New Multitask Enzyme in Energy Metabolism

(2021) Anne Briolay et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Tissue-Nonspecific Alkaline Phosphatase, a Possible Mediator of Cell Maturation: Towards a New Paradigm

(2021) Masahiro Sato et al.   Cells

Large‐Scale In Vitro Functional Testing and Novel Variant Scoring via Protein Modeling Provide Insights Into Alkaline Phosphatase Activity in Hypophosphatasia

(2020) Guillermo Angel et al.   HUMAN MUTATION

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

(2020) Etienne Mornet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Bone marrow adipogenic lineage precursors promote osteoclastogenesis in bone remodeling and pathologic bone loss

(2020) Wei Yu et al.   JOURNAL OF CLINICAL INVESTIGATION

Recovery of bone mineralization and quality during asfotase alfa treatment in an adult patient with infantile-onset hypophosphatasia

(2019) Tim Rolvien et al.   BONE

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study

(2019) Michael P. Whyte et al.   JOURNAL OF PEDIATRICS

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

(2019) Nicola Hepp et al.   CALCIFIED TISSUE INTERNATIONAL

Consensus guidelines on the use of bisphosphonate therapy in children and adolescents

(2018) Peter J Simm et al.   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Cyclic bisphosphonate therapy reduces pain and improves physical functioning in children with osteogenesis imperfecta

(2018) Melissa D. Garganta et al.   BMC MUSCULOSKELETAL DISORDERS

Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial

(2018) Michael P Whyte et al.   Lancet Diabetes & Endocrinology

Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia

(2018) Priya S. Kishnani et al.   BONE

Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

(2017) Stéphane Blouin et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa

(2017) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Defective WNT signaling associates with bone marrow fibrosis—a cross-sectional cohort study in a family with WNT1 osteoporosis

(2017) R. E. Mäkitie et al.   OSTEOPOROSIS INTERNATIONAL

Fate decision of mesenchymal stem cells: adipocytes or osteoblasts?

(2016) Q Chen et al.   CELL DEATH AND DIFFERENTIATION

Bone Material Properties in Osteogenesis Imperfecta

(2016) Nick Bishop   JOURNAL OF BONE AND MINERAL RESEARCH

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

(2016) Nadja Fratzl-Zelman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment

(2016) Michael P. Whyte   Nature Reviews Endocrinology

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum

(2016) G. Bardai et al.   OSTEOPOROSIS INTERNATIONAL

Hypophosphatasia

(2016) Agnès Linglart et al.   Current Osteoporosis Reports

Fragility of Bone Material Controlled by Internal Interfaces

(2015) Wolfgang Wagermaier et al.   CALCIFIED TISSUE INTERNATIONAL

Alkaline Phosphatase and Hypophosphatasia

(2015) José Luis Millán et al.   CALCIFIED TISSUE INTERNATIONAL

Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment

(2015) Tim Cundy et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Intravenous Bisphosphonate Therapy of Young Children With Osteogenesis Imperfecta: Skeletal Findings During Follow Up Throughout the Growing Years

(2015) Telma Palomo et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations

(2013) Nadja Fratzl-Zelman et al.   BONE

Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta: A New Target for Osteogenesis Imperfecta Pharmacological Therapy

(2012) Roberta Gioia et al.   STEM CELLS

A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population

(2011) Etienne Mornet et al.   ANNALS OF HUMAN GENETICS

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Skeletal mineralization defects in adult hypophosphatasia—a clinical and histological analysis

(2011) F. Barvencik et al.   OSTEOPOROSIS INTERNATIONAL

Dynamics of the transition from osteoblast to osteocyte

(2010) Sarah L. Dallas et al.   Annals of the New York Academy of Sciences

Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study

(2010) L. M. Ward et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

(2009) N. Fratzl-Zelman et al.   BONE

Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations

(2008) Paul Roschger et al.   CALCIFIED TISSUE INTERNATIONAL

Large Osteoclasts in Pediatric Osteogenesis Imperfecta Patients Receiving Intravenous Pamidronate

(2008) Moira S Cheung et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Bone mineralization density distribution in health and disease

(2007) P. Roschger et al.   BONE