Results 151 to 160 of about 18,914 (186)

Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework. [PDF]

J Patient Rep Outcomes
Simeon R, Usai M, Tramonti A, Canova R, Frigerio D, Berardi A, Pelosin E, Cosentino C.   +7 more
europepmc   +1 more source

Adenovirus Vector-Mediated In Vivo Knock-in Treatment of Neonatal Phenylketonuria Mice Using Terminally Cleaved Donor DNA. [PDF]

J Gene Med
Yamaji M, Tabata H, Nakamura M, Fuse R, Okada T, Ohba SI, Ohishi T, Kawada M, Saito I, Sato S, Nakanishi T.   +10 more
europepmc   +1 more source

Reply to Iqhrammullah, M. Comment on "Bokayeva et al. Vitamin Status in Patients with Phenylketonuria: A Systematic Review and Meta-Analysis. <i>Int. J. Mol. Sci.</i> 2024, <i>25</i>, 5065". [PDF]

Int J Mol Sci
Jamka M, Bokayeva K, Walkowiak D, Duś-Żuchowska M, Herzig KH, Walkowiak J.   +5 more
europepmc   +1 more source

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness. [PDF]

J Inherit Metab Dis
Himmelreich N, Blau N.
europepmc   +1 more source

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation. [PDF]

Orphanet J Rare Dis
Muntau AC, Zhang R, Chakrapani A, Hamazaki T, Lah M, Ruebel DJ, Vijay S, Zori RT, Feillet F, Longo N, Northrup H, Hollander S, O'Connell T, Woolley JJ, Tomazos I.   +14 more
europepmc   +1 more source

Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study. [PDF]

Nutrients
Kowalik A, Głąb-Jabłońska E, Taybert J, Nogalska M, Sasin-Rokita M, Chełchowska M, Myszkowska-Ryciak J, Sykut-Cegielska J.   +7 more
europepmc   +1 more source

Scoping review protocol of interventions for widening access to healthcare services in people living with rare diseases in Africa. [PDF]

BMJ Open
Seheri M, Mawela D, Kgosana L, Baker C, van Hougenhouck-Tulleken W, Oladimeji O.   +5 more
europepmc   +1 more source

Editorial: Impact of dietary factors on human gut microbiota and gastrointestinal endocrinology. [PDF]

Front Endocrinol (Lausanne)
Hansson P, Myhrstad MCW, Costantini L.
europepmc   +1 more source