专题：Dermatological and Skeletal Disorders

This cluster of papers focuses on genetic disorders such as Pseudoxanthoma Elasticum, Arterial Calcification, and Osteopoikilosis, caused by mutations in genes like ABCC6, ENPP1, and TGF-ß1. These mutations lead to ectopic mineralization and connective tissue abnormalities, contributing to the understanding of genetic heterogeneity and clinical manifestations of these diseases.
最新文献
Non-nutritional rickets: Approach to diagnosis and management

article Full Text OpenAlex

Pseudogout attack following zoledronic acid treatment in primary hyperparathyroidism

article Full Text OpenAlex

Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report

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A phase II basket trial of vosoritide in children with RASopathies, ACAN, and NPR2 deficiency

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Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact

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Acquired Reactive Perforating Collagenosis following Cabozantinib – a case report

article Full Text OpenAlex

Erdafitinib‐Induced Flexural Calcinosis Cutis in a Pediatric Patient: A Drug‐Specific Side‐Effect?

article Full Text OpenAlex

Generalized Pustular Psoriasis

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Penicillamine‐induced elastosis perforans serpiginosa

article Full Text OpenAlex

Pediatric tuberous sclerosis complex: assessment of multidisciplinary follow-up in an expert center

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近5年高被引文献
Efficacy and Safety of Acoramidis in Transthyretin Amyloid Cardiomyopathy

article Full Text OpenAlex 423 FWCI91.2061

Vutrisiran in Patients with Transthyretin Amyloidosis with Cardiomyopathy

article Full Text OpenAlex 325 FWCI70.4085

Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis

article Full Text OpenAlex 290 FWCI42.4709

Molecular Mechanisms of Vascular Health: Insights From Vascular Aging and Calcification

review Full Text OpenAlex 122 FWCI15.3701

Prevalence, Characteristics and Outcomes of Older Patients with Hereditary Versus Wild-Type Transthyretin Amyloid Cardiomyopathy

article Full Text OpenAlex 92 FWCI13.7222

Vascular calcification: Molecular mechanisms and therapeutic interventions

review Full Text OpenAlex 91 FWCI14.4432

Sex differences among patients with transthyretin amyloid cardiomyopathy – from diagnosis to prognosis

article Full Text OpenAlex 91 FWCI7.1933

Targeting TGF-β for treatment of osteogenesis imperfecta

article Full Text OpenAlex 77 FWCI13.1493

Ichthyosis

review Full Text OpenAlex 77 FWCI15.404

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

article Full Text OpenAlex 68 FWCI9.4558