Cargando…

Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management

Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic variations of 78 genes that represe...

Descripción completa

Detalles Bibliográficos
Autores principales:	Charoenngam, Nipith, Nasr, Aryan, Shirvani, Arash, Holick, Michael F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601711/ https://www.ncbi.nlm.nih.gov/pubmed/36292765 http://dx.doi.org/10.3390/genes13101880

Ejemplares similares

Vitamin D and Its Potential Benefit for the COVID-19 Pandemic
por: Charoenngam, Nipith, et al.
Publicado: (2021)

Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta
por: Holick, Michael F., et al.
Publicado: (2021)

Immunologic Effects of Vitamin D on Human Health and Disease
por: Charoenngam, Nipith, et al.
Publicado: (2020)

Authors’ Reply: Vitamin D Sufficiency and COVID-19: Is Vitamin D Binding Protein (and Its Polymorphism) the Missing Link?
por: Charoenngam, Nipith, et al.
Publicado: (2021)

Association of Vitamin D Status With Hospital Morbidity and Mortality in Adult Hospitalized Patients With COVID-19
por: Charoenngam, Nipith, et al.
Publicado: (2021)

THU411 Fracture And Osteoporosis In Hereditary Connective Tissue Disorders: A Systematic Review And Meta-analysis
por: Charoenngam, Nipith, et al.
Publicado: (2023)

Vitamin D and Rheumatic Diseases: A Review of Clinical Evidence
por: Charoenngam, Nipith
Publicado: (2021)

Association between Hyperglycemia at Hospital Presentation and Hospital Outcomes in COVID-19 Patients with and without Type 2 Diabetes: A Retrospective Cohort Study of Hospitalized Inner-City COVID-19 Patients
por: Charoenngam, Nipith, et al.
Publicado: (2021)

Self-identified Race and COVID-19-Associated Acute Kidney Injury and Inflammation: a Retrospective Cohort Study of Hospitalized Inner-City COVID-19 Patients
por: Charoenngam, Nipith, et al.
Publicado: (2021)

Current issues in evaluation and management of osteoporosis in Thailand
por: Charoenngam, Nipith, et al.
Publicado: (2023)

Increased fat mass negatively influences femoral neck bone mineral density in men but not women
por: Charoenngam, Nipith, et al.
Publicado: (2023)

Primary Hyperparathyroidism in a Patient With Bilateral Pheochromocytoma and a Mutation in the Tumor Suppressor MAX
por: Charoenngam, Nipith, et al.
Publicado: (2023)

FRI672 Bone Mineral Density In Neurofibromatosis Type 1: A Systematic Review And Meta-analysis
por: Charoenngam, Nipith, et al.
Publicado: (2023)

Thyroid Dysfunction and Risk of Parkinson’s Disease: A Systematic Review and Meta-Analysis
por: Charoenngam, Nipith, et al.
Publicado: (2022)

Vitamin D-Related Genetic Variations and Nonalcoholic Fatty Liver Disease: A Systematic Review
por: Jaroenlapnopparat, Aunchalee, et al.
Publicado: (2022)

Association between statin use & risk of diffuse large B-cell lymphoma: A systematic review & meta-analysis
por: Ponvilawan, Ben, et al.
Publicado: (2023)

SAT-LB091 Vitamin D Status in Doing-Well Medical Ambulatory Patients with Mild to Moderate Kidney Impairment
por: Charoenngam, Nipith, et al.
Publicado: (2019)

Darker Skin Color Measured by Von Luschan Chromatic Scale and Increased Sunlight Exposure Time Are Independently Associated with Decreased Odds of Vitamin D Deficiency in Thai Ambulatory Patients
por: Charoenngam, Nipith, et al.
Publicado: (2021)

Vitamin D and uric acid: Is parathyroid hormone the missing link?
por: Ponvilawan, Ben, et al.
Publicado: (2021)

Genetic Variations of the Vitamin D Metabolic Pathway and COVID-19 Susceptibility and Severity: Current Understanding and Existing Evidence
por: Charoenngam, Nipith, et al.
Publicado: (2023)

Is stem cell transplantation still needed for adult Philadelphia chromosome-positive acute lymphoblastic leukemia receiving tyrosine kinase inhibitors therapy?: A systematic review and meta-analysis
por: Ponvilawan, Ben, et al.
Publicado: (2021)

Man of Steel Syndrome: Silicone and Mineral Oil Injections With Associated Hypercalcemia, Hypophosphatemia, and Proximal Muscle Weakness
por: Shirvani, Arash, et al.
Publicado: (2019)

The proportion of Thai postmenopausal women who would be eligible for anti-osteoporosis therapy
por: Chanidkul, Piyachat, et al.
Publicado: (2023)

FRI051 Lean Mass And Fat Mass Across Different Age Groups In The Thai Population
por: Charoenngam, Nipith, et al.
Publicado: (2023)

Disassociation of Vitamin D’s Calcemic Activity and Non-calcemic Genomic Activity and Individual Responsiveness: A Randomized Controlled Double-Blind Clinical Trial
por: Shirvani, Arash, et al.
Publicado: (2019)

Association of premature ventricular complexes and risk of ischemic stroke: A systematic review and meta‐analysis
por: Rujirachun, Pongprueth, et al.
Publicado: (2020)

Increased Risk of Systemic Lupus Erythematosus in Patients with Chronic Urticaria: A Systematic Review and Meta-analysis
por: Waitayangkoon, Palapun, et al.
Publicado: (2023)

Atypical Femoral Fracture in Hypophosphatasia: A Systematic Review
por: Charoenngam, Nipith, et al.
Publicado: (2023)

FRI680 Atypical Femoral Fracture In Patients With Hypophosphatasia: A Systematic Review
por: Charoenngam, Nipith, et al.
Publicado: (2023)

THU613 Multiple Endocrine Neoplasia Type 5 Associated With Germline Max Mutations—New Insights Into This Proposed Entity
por: Charoenngam, Nipith, et al.
Publicado: (2023)

Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View
por: Daniłowicz-Szymanowicz, Ludmiła, et al.
Publicado: (2021)

Metabolic Bone Disease of Prematurity: Diagnosis and Management
por: Faienza, Maria Felicia, et al.
Publicado: (2019)

Bradykinin and the Pathogenesis of Hereditary Angioedema
por: Kaplan, Allen P
Publicado: (2011)

Acquired and hereditary bone marrow failure: A mitochondrial perspective
por: Nasr, Waseem, et al.
Publicado: (2022)

Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management
por: Angel, Cuesta M.
Publicado: (2022)

Hereditary severe insulin resistance syndrome: Pathogenesis, pathophysiology, and clinical management
por: Iqbal, Junaid, et al.
Publicado: (2022)

Molecular Diagnostic and Pathogenesis of Hereditary Hemochromatosis
por: Santos, Paulo C. J. L., et al.
Publicado: (2012)

An update on the genetics and pathogenesis of hereditary angioedema
por: Banday, Aaqib Zaffar, et al.
Publicado: (2019)

Consensus on diagnosis and management of Hereditary Angioedema in the Middle East: A Delphi initiative
por: Maurer, Marcus, et al.
Publicado: (2022)

Scalp Pruritus: Review of the Pathogenesis, Diagnosis, and Management
por: Rattanakaemakorn, Ploysyne, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_7b95c4rjmp92omlehj44t851u9