Results 101 to 110 of about 69,044 (178)

Improving sapropterin administration efficacy in PKU: Clinical practice case studies. [PDF]

Mol Genet Metab Rep
Tosi M, Daly A, Ashmore C, Pinto A, Vijay S, Verduci E, Evans S, MacDonald A.   +7 more
europepmc   +1 more source

A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency. [PDF]

Mol Syndromol
Peker A, Uzuner SY, Clark ÖA, Demirelli GD, Paksoy BA, Soyuçen E, Mıhçı E.   +6 more
europepmc   +1 more source

Clinical, Biochemical, and Radiologic Profiles of Filipino Patients with 6-Pyruvoyl-Tetrahydrobiopterin Synthase (6-PTPS) Deficiency and their Neurodevelopmental Outcomes. [PDF]

Acta Med Philipp
de Castro-Hamoy LG, Moral MALA, Calotes-Castillo LV, Abacan MAR, Cordero CP, Pagaspas MLC, Maceda EBG, Estrada SC, Chiong MAD.   +8 more
europepmc   +1 more source

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024. [PDF]

Front Pediatr
Ou MM, Sun CT, Zhang L, Kong LL, Zhang LX, Zheng J, Zhang PY, Wang YM, Lin XF, Yang X.   +9 more
europepmc   +1 more source

Balancing personalized medicine and scalability in base editing for phenylketonuria. [PDF]

Mol Ther Nucleic Acids
Nicosia L.
europepmc   +1 more source

Correction to "Associations between Predictors of PTSD and Psychosocial Functioning in Veterans: Results from a Longitudinal Assessment Study". [PDF]

Depress Anxiety
europepmc   +1 more source