Results 111 to 120 of about 11,515 (196)

Inhibitors of the Neutral Amino Acid Transporter SLC6A19 May Treat Diseases or Disorders Associated with Abnormal Amino Acid Metabolism, Epithelial Amino Acid Transport, and/or Amino Acid Levels. [PDF]

ACS Med Chem Lett
Abdel-Magid AF.
europepmc   +1 more source

Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice. [PDF]

JIMD Rep
Lundkvist P, Malmberg KB, Lindström L, Kindmark A.   +3 more
europepmc   +1 more source

Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria. [PDF]

EXCLI J
Yang F, Li HF, Tang WJ, Zhu JP, Qiu JG, Cai TE, Yu LM, Yu Y.   +7 more
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

The Role of Digital Tools and Their Implementation Within Patient Care Pathways for Rare Brain Disorders: The Case of Phenylketonuria. [PDF]

Eur J Neurol
Cannizzo S, Quoidbach V, Sheehan-Gilroy B, Hagedorn T, Bak A, Dickson SL, Treacy EP, Hermida A, MacDonald A, Venegas E, O'Byrne J, Scarpa M, Van Spronsen F, Lange E, Buckinx T, Monavari A, Dahl SV, Trieste L, Turchetti G.   +18 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

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype. [PDF]

Mol Genet Metab Rep
Demirbas D, Waisbren SE, Bodamer O, Hung CY, Rajabi F, Berry G, Levy HL.   +6 more
europepmc   +1 more source

Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status. [PDF]

J Inherit Metab Dis
Garcia-Arenas D, Ormazabal A, Isern P, Barrau-Martinez B, Gonzalez-Rodriguez A, Tor-Roca A, Llorach R, Campistol-Plana J, Urpi-Sarda M, Consortium PKU.cat..   +9 more
europepmc   +1 more source

Docosahexaenoic acid supplementation in phenylketonuria: a systematic review. [PDF]

Front Nutr
Alanís-Bernal M, Boada-Oller L, Sojitra M.   +2 more
europepmc   +1 more source

Artificial Cells: Perspective on Reconstructing Biological Cells and "Out of the Box" Innovations. [PDF]

Chembiochem
Chang TMS.
europepmc   +1 more source