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Archives of Physical Medicine and Rehabilitation|June 26, 2026
Neurogenic bowel dysfunction in multiple sclerosis: clinical determinants and its association with bladder dysfunction in a multicenter studyYeşim Akkoç, Necmettin Yıldız, Hilal Adanur, et al.
Orphanet Journal of Rare Diseases|August 31, 2018
Can untreated PKU patients escape from intellectual disability? A systematic reviewDanique van Vliet, Annemiek M J van Wegberg, Kirsten Ahring, et al.
Turkish Journal of Medical Sciences|July 21, 2025
Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in TürkiyeEkin Özsaydi Aktaşoğlu, Aslı Inci, Rıdvan Murat Öktem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2019
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patientsChristian Staufner, Bianca Peters, Matias Wagner, et al.
Frontiers in Pediatrics|March 14, 2025
Caffeine use in preterm neonates: national insights into Turkish NICU practicesSezin Unal, Serdar Beken, Deniz Anuk Ince, et al.
Nature Genetics|March 30, 2010
A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancerLambertus A Kiemeney, Patrick Sulem, Soren Besenbacher, et al.
Tuberkuloz Ve Toraks|December 29, 2009
The WHO global alliance against chronic respiratory diseases in Turkey (GARD Turkey)A Yorgancioğlu, H Türktaş, O Kalayci, et al.
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