ArticleJournal of endocrinological investigation2015
Rare diseases in clinical endocrinology: a taxonomic classification system.
Article in Journal of endocrinological investigation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- The Prevalence of Adrenal Insufficiency in Individuals with Traumatic Spinal Cord Injury: A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2025Review
- Digital Phenotyping of Rare Endocrine Diseases Across International Data Networks and the Effect of Granularity of Original Vocabulary.Yonsei medical journal · 2025Article
- Hypoparathyroidism and pseudohypoparathyroidism in pregnancy: an Italian retrospective observational study.Orphanet journal of rare diseases · 2021Observational
- Congenital Conditions of Hypophosphatemia Expressed in Adults.Calcified tissue international · 2021Review
- HABP2 G534E variation in familial non-medullary thyroid cancer: an Italian series.Journal of endocrinological investigation · 2017Article
- The molecular classification of hereditary endocrine diseases.Endocrine · 2015Article
Corrections and comments
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Authors and funding
29 authors at 17 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeRare endocrine-metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to endocrinologists involve all fields of endocrinology, including rare diseases of the pituitary, thyroid and adrenal glands, paraganglia, ovary and testis, disorders of bone and mineral metabolism, energy and lipid metabolism, water metabolism, and syndromes with possible involvement of multiple endocrine glands, and neuroendocrine tumors. Taking advantage of the constitution of a study group on REMD within the Italian Society of Endocrinology, consisting of basic and clinical scientists, a document on the taxonomy of REMD has been produced. METHODS AND
resultsThis document has been designed to include mainly REMD manifesting or persisting into adulthood. The taxonomy of REMD of the adult comprises a total of 166 main disorders, 338 including all variants and subtypes, described into 11 tables.
conclusionsThis report provides a complete taxonomy to classify REMD of the adult. In the future, the creation of registries of rare endocrine diseases to collect data on cohorts of patients and the development of common and standardized diagnostic and therapeutic pathways for each rare endocrine disease is advisable. This will help planning and performing intervention studies in larger groups of patients to prove the efficacy, effectiveness, and safety of a specific treatment.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.