Results 161 to 170 of about 116,766 (274)

Oral microbiome profiling of primary oral candidiasis during infection and post-antifungal therapy. [PDF]

open access: yesClin Oral Investig
Azizan N   +9 more
europepmc   +1 more source

Acute Intermittent Porphyria Triggered by COVID‐19 Mimicking Guillain–Barré Syndrome: A Diagnostic Challenge

open access: yesClinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Payman Sadeghi   +5 more
wiley   +1 more source

Candida Infections in Marine Mammals: Epidemiology, Antifungal Resistance, and One Health Implications. [PDF]

open access: yesAnimals (Basel)
Haroun M   +5 more
europepmc   +1 more source

A novel case of autosomal recessive CARD11 loss‐of‐function underlying impaired antiviral immunity and a review of literature

open access: yesClinical &Translational Immunology, Volume 15, Issue 5, 2026.
We report on a patient homozygous for a novel autosomal recessive loss‐of‐function CARD11 variant, with susceptibility to live attenuated virus (LAV) vaccines and impaired clearance of multiple naturally acquired respiratory viral infections. Inborn errors of immunity affecting the CARD11‐BCL10‐MALT1 (CBM) complex should be considered in individuals ...
Hamish Anderson   +12 more
wiley   +1 more source

Disseminated Papulopustular Candidiasis in an Immunocompetent adult: A case report. [PDF]

open access: yesIDCases
Neetha TR   +9 more
europepmc   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

open access: yesJPGN Reports, Volume 7, Issue 2, Page 242-246, May 2026.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno   +7 more
wiley   +1 more source

Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1423-1426, June 2026.
Maria Paula Silva   +7 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

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