Results 81 to 90 of about 669 (133)

Quality of life after diet liberalization in individuals with phenylketonuria treated with Pegvaliase. [PDF]

Mol Genet Metab Rep
Cazzorla C, Gaiga G, Carretta J, Gragnaniello V, Loro C, Gueraldi D, Dorigato A, Burlina AP, Burlina AB.   +8 more
europepmc   +1 more source

Nutritional and Therapeutic Strategies in Paediatric Phenylketonuria: A Narrative Literature Review. [PDF]

Nutrients
Jones H, Strehle EM.
europepmc   +1 more source

Two-Year Outcomes of Sapropterin Treatment in Children with Phenylketonuria: A Longitudinal Observational Study of Metabolic, Dietary, and Psychosocial Effects. [PDF]

Nutrients
Yilmaz Nas O, Ashmore C, Gama MI, Daly A, Evans S, Pinto A, Ozdogan Y, MacDonald A.   +7 more
europepmc   +1 more source

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

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Sahira, Hujjat SFZ, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

Current state of the treatment landscape of phenylketonuria. [PDF]

Orphanet J Rare Dis
Nulmans I, Lequeue S, Desmet L, Neuckermans J, De Kock J.   +4 more
europepmc   +1 more source

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study. [PDF]

Orphanet J Rare Dis
Bahtiri L, Jørgensen C, Ahring K, Rasmussen H, Hermansen JM, Fjellbirkeland OW, Lund AM, Ørngreen MC.   +7 more
europepmc   +1 more source

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source

DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes. [PDF]

Neurol Genet
Manti F, Ricciardi G, Nardecchia F, Tolve M, Artiola C, Carbone MT, Carducci C, Mei D, Porta F, Ortolano R, Candela E, Burlina A, Guerrini R, Pisani F, Angeloni A, Leuzzi V.   +15 more
europepmc   +1 more source

Seeking stability for gene addition in inborn errors of metabolism. [PDF]

Mol Ther Nucleic Acids
von Beck T, Koeberl DD.
europepmc   +1 more source