Results 141 to 150 of about 1,551 (187)

“Outcomes of Oral Sapropterin Dose Escalation to 40 mg/kg and 60 mg/kg in the Management of BH4-Responsive and Non-Responsive Phenylketonuria (PKU): Real-World Case Series and Clinical Insights”

S. El Karimi, Christine Horine, Aurora Aguilera   +2 more
openalex   +1 more source

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

Point-of-Care Testing in PKU: A New ERA of Blood Phenylalanine Monitoring. [PDF]

Nutrients
Pinto A, Gerrard A, Vijay S, Evans S, Daly A, Ashmore C, Gama MI, Rocha JC, Singh R, Jackson R, MacDonald A.   +10 more
europepmc   +1 more source

Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria. [PDF]

J Neurodev Disord
Pardo J, Capdevila-Lacasa C, Segura B, Pané A, Moreno PJ, Garrabou G, Grau-Junyent JM, Junqué C, Consortium PKU.cat.   +8 more
europepmc   +1 more source

Computational Study of Pathogenic Variants in Phenylalanine-4-hydroxylase (PAH): Insights into Structure, Dynamics, and BH₄ Binding. [PDF]

ACS Omega
Islam SM, Stennett J, Hasan MM, Shah K.
europepmc   +1 more source

Cardiovascular challenges of aging in a hotter environment: a narrative review. [PDF]

J Appl Physiol (1985)
Cottle RM, Wolf ST, Kenney WL.
europepmc   +1 more source

Rethinking phenylalanine levels in phenylketonuria for optimal neurocognitive development beyond childhood. [PDF]

Front Pediatr
Câmara B, Florindo C, de Lima CB, Correia N, Fernandes I, Batista M, Gaspar A, Janeiro P.   +7 more
europepmc   +1 more source

Serotonin dysfunction in ADHD. [PDF]

J Neurodev Disord
Jackson EF, Riley TB, Overton PG.
europepmc   +1 more source