CASE REPORT
Published on 25 Sep 2025
Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report
doi 10.3389/fmed.2025.1664961
- 1,037 views
- Frontiers in Molecular Biosciences
- Cellular Biochemistry
- Research Topics
- Molecular Mechanisms and Precision Medicine in Rare Diseases
Molecular Mechanisms and Precision Medicine in Rare Diseases
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Articles
ORIGINAL RESEARCH
Published on 11 Sep 2025
Gain-of-function mutations in KATP channel subunits compromise colonic tight junction integrity and epithelial homeostasis in murine models of Cantú syndrome
doi 10.3389/fmed.2025.1656718
- 1,172 views
ORIGINAL RESEARCH
Published on 22 Aug 2025
Long-term impact of growth hormone therapy on mortality and type 2 diabetes in Prader–Willi syndrome: a nationwide cohort study
doi 10.3389/fendo.2025.1642129
- 1,635 views
ORIGINAL RESEARCH
Published on 14 Aug 2025
Pseudohypoparathyroidism type 1B mimicking gitelman syndrome: diagnostic pitfalls and molecular insights
doi 10.3389/fgene.2025.1638472
- 1,515 views
ORIGINAL RESEARCH
Published on 03 Jun 2025
Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia
doi 10.3389/fcell.2025.1572571
- 1,887 views
ORIGINAL RESEARCH
Published on 04 Aug 2023
Rare phylotypes in stone, stool, and urine microbiomes are associated with urinary stone disease
doi 10.3389/fmolb.2023.1210225
- 2,726 views
- 4 citations
Published in
Frontiers in Molecular Biosciences
Cellular Biochemistry
Molecular Diagnostics and Therapeutics
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Frontiers in Cell and Developmental Biology
- 4.3 impact factor
- 11.4 citescore