Results 191 to 200 of about 129,354 (289)

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot   +33 more
wiley   +1 more source

Vitamin D Receptor Gene Variants Associated with Serum 25(OH)D<sub>3</sub> Levels in Patients with Dry Eye Syndrome. [PDF]

open access: yesLife (Basel)
Savic B   +6 more
europepmc   +1 more source

Evaluation of an enhanced viscosity artificial tear for moderate to severe dry eye disease: A multicenter, double-masked, randomized 30-day study [PDF]

open access: yes, 2019
Berdy, Gregg   +8 more
core   +1 more source

RPA Combined With CRISPR/Cas12a for Rapid and Ultrasensitive Detection Dual‐Gene of Methicillin‐Resistant Staphylococcus aureus (MRSA)

open access: yesJournal of Molecular Recognition, Volume 39, Issue 3, May 2026.
ABSTRACT The increasing issue of infections caused by methicillin‐resistant Staphylococcus aureus (MRSA) necessitates rapid and reliable diagnostic methods. While existing RPA‐CRISPR/Cas12a platforms have demonstrated potential for MRSA detection, most rely on single‐gene targets or require multiple Cas enzymes.
Lei Chen   +3 more
wiley   +1 more source

Prevalence and Risk Factors of Dry Eye Syndrome Among Medical Students in the Northern Philippines: A Cross-Sectional Survey. [PDF]

open access: yesCureus
Mondiguing MAN   +9 more
europepmc   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

open access: yesJPGN Reports, Volume 7, Issue 2, Page 370-373, May 2026.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon   +10 more
wiley   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang   +8 more
wiley   +1 more source

Dry Eye Syndrome in Children during the COVID-19 Pandemic. [PDF]

open access: yesKorean J Ophthalmol
Hwang YK   +5 more
europepmc   +1 more source

Procedural‐Based Contemporary Management of Bell's Palsy Long‐Term Sequelae: A Narrative Review

open access: yesOtolaryngology–Head and Neck Surgery, Volume 174, Issue 5, Page 1177-1187, May 2026.
Abstract Objective To describe the long‐term sequelae of Bell's palsy and summarize available treatment options, including recent advances, so that general otolaryngologists and other practitioners are aware of the clinical findings and available interventions. Data Sources PubMed.
Robert M. Frederick   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy