Disseminated Histoplasmosis Masquerading as Metastatic Malignancy: A Diagnostic Odyssey in an Immunocompromised Host. [PDF]
CureusChanda AB +4 more
europepmc +1 more source
Caring for Rare Genetic Disease: A Vision for the Future
Journal of Genetic Counseling, Volume 35, Issue 5, October 2026.ABSTRACT The United Nations, 2021 resolution to promote and protect the human rights of the estimated 300 million People Living with a Rare Disease and their families, set a milestone worldwide. At the same time, the successful diagnostic results of large genomic initiatives are reshaping rare disease healthcare in many countries.
Ruth Horn +2 more
wiley +1 more source
Integrative Literature Review on the Lived Experiences of Parents of Children with a Rare Disease. [PDF]
Healthcare (Basel)Guillari A +4 more
europepmc +1 more source
End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes. [PDF]
J Med GenetDamen L +9 more
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Patient-Centric Approach to Improve the Quality of Life and Healing Efficacy for Patients With Fabry Disease: A Grounded Theory-Based Analysis. [PDF]
J Korean Med SciGwak SY +7 more
europepmc +1 more source
Revertant Mosaicism Obscures Long‐Awaited Molecular Confirmation of Diamond‐Blackfan Anemia
American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2381-2383, October 2026.
Nicholas A. Borja, Mustafa Tekin
wiley +1 more source
Contemporary non-statin therapies for dyslipidemia management: achieving current lipid targets. [PDF]
Front Med (Lausanne)Ponte-Negretti CI +13 more
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Through a Clearer Glass: The Endocrine Window in Sharper Focus: Measurement, the Uncommon, and the Discipline of Seeing Clearly. [PDF]
J ASEAN Fed Endocr SocJimeno CA.
europepmc +1 more source