Registry Study of the Working Group on Cervical Pathology and Colposcopy (AGCPC) on the Diagnostic Algorithm for the New Cervical Cancer Screening - Persistent HPV Infections and Squamous Cell Lesions: Evaluation of over 10000 Patients. [PDF]
Henes M +15 more
europepmc +1 more source
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions. [PDF]
Thimm E +8 more
europepmc +1 more source
RFFL-mediated protein quality control limits functional rescue of TRID-CFTR modulator combination therapy for cystic fibrosis nonsense mutations. [PDF]
Tateishi H +3 more
europepmc +1 more source
Implications for cystic fibrosis therapy: Potentiator icenticaftor is superior to ivacaftor in improving function and maintaining stability of F508del CFTR. [PDF]
Cholon DM +6 more
europepmc +1 more source
Current Status of Newborn Screening in Southeastern and Central Europe. [PDF]
Požun N +44 more
europepmc +1 more source
Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA). [PDF]
Priya M +4 more
europepmc +1 more source
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management [PDF]
Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme.
Jose Victor Alvarez Gonzalez +2 more
exaly +4 more sources

