Latest Research in Parathyroid Disorders and Treatments

Top Research Topics in Parathyroid Disorders and Treatments

• Parathyroid Disorders and Treatments — 6 papers
• Trace Elements in Health — 3 papers
• Alkaline Phosphatase Research Studies — 2 papers
• Cell Adhesion Molecules Research — 2 papers
• Lysosomal Storage Disorders Research — 2 papers
• Genetic and Kidney Cyst Diseases — 2 papers
• Barrier Structure and Function Studies — 2 papers
• Pancreatic function and diabetes — 1 papers
• Pediatric Hepatobiliary Diseases and Treatments — 1 papers
• Drug Transport and Resistance Mechanisms — 1 papers

Highest-Cited Papers

1. Genotype-phenotype correlations in HNF1B-associated disease: a systematic review
2. Duodenal fluid analysis of 13 patients with progressive familial intrahepatic cholestasis type 2 from a single institution
3. Expert Delphi consensus on the diagnosis and management of Hypophosphatasia in the Gulf Cooperation Council region
4. Adult X-linked hypophosphatemia: multisystem morbidity and no evidence of genotype–phenotype correlation – insights from a Brazilian cohort
5. Novel genetic variants and atypical phenotypes in pediatric progressive familial intrahepatic cholestasis
6. Health-Related Quality of Life in Children with X-Linked Hypophosphatemia Treated with Burosumab: Real-World Data from a German-Swiss Study
7. Burosumab as bridging therapy in autosomal dominant hypophosphatemic rickets with femoral fracture nonunion and iron deficiency
8. Medical treatment of adult patients with X-linked hypophosphatemia
9. Probable autosomal dominant Alport syndrome associated with a novel COL4A4 variant: A case report
10. Fabry Disease Screening and Registry Framework (FDSRF) in Saudi Arabia: Rationale, Design and Implementation
11. CDK4/6 Inhibitor Abemaciclib Arrests and Reverses Kidney Cyst Progression in Preclinical Models of Autosomal Dominant Polycystic Kidney Disease
12. The First Genomic Study in a Romanian Spotted Calf with Ectopia Cordis Thoracalis
13. Vitamin D-dependent Rickets Type 1A: Recognizing Clinical Clues to Avoid Delayed Diagnosis
14. Stoichiometric calibration of ceruloplasmin activity with copper enables molar quantification and has implications for the estimation of non-ceruloplasmin-bound copper
15. Mild Encephalopathy With Reversible Splenium Lesion in Pediatric Patients
16. Critical Analysis of Metallothionein Immunohistochemistry for Diagnosis of Pediatric Wilson Disease: Histologic Scoring Facilitates Distinction from Clinical Mimics
17. Neuroimmune buffering reserve at the neurovascular unit: a CLDN5- and microglia-centred view of recurrent peripheral inflammation
18. Pyruvate kinase deficiency misdiagnosed as thalassemia for more than three decades: a case report
19. The Importance of Familial Co‐segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease
20. Routine clinical test markers with MRI anatomical anchoring for dysphagia risk identification in wilson disease: model development and external validation using a two-center database