Results 61 to 70 of about 1,229 (164)

Phenylketonuria and type 1 diabetes: a clinical and nutritional challenge in a young adult-a case report. [PDF]

Acta Diabetol
Piccolo C, de Candia S, Natalicchio A, Di Molfetta S, Caruso I, Laviola L, Giorgino F, Sorice GP.   +7 more
europepmc   +1 more source

A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.

Hum Hered, 2023
Ghanei M, Sadat Fatemi SH, Hamzehlouei T.   +2 more
europepmc   +1 more source

Sepiapterin as a treatment for people living with phenylketonuria: a plain language summary of the APHENITY trial. [PDF]

J Comp Eff Res
Muntau AC, Gallagher S, Lah M, Belanger-Quintana A, Longo N.   +4 more
europepmc   +1 more source

Dietary conflicts with standard clinical procedures for colonoscopy in Phenylketonuria: a case report. [PDF]

J Med Case Rep
Tosi M, Daly A, Ashmore C, Pinto A, Evans S, Verduci E, Ford S, Hill M, Grimsley A, MacDonald A.   +9 more
europepmc   +1 more source

Analysis of <i>PAH</i> Genetic Variation and Phenotypic Diversity in the PAHvdb. [PDF]

Int J Mol Sci
Amirgazin A, Mambetpayeva B, Akhmetova A, Kairzhanova A, Shevtsov A.   +4 more
europepmc   +1 more source

Advanced MR imaging features of uncontrolled phenylketonuria in an adult patient. [PDF]

Arq Neuropsiquiatr, 2023
Ayasli A, Ogul H, Onbas O.
europepmc   +1 more source

Improved dietary control results in improvements in indices of white matter structure in adults with phenylketonuria: the ReDAPT study. [PDF]

Acta Neuropsychiatr
Kang MJY, Adamson C, Malpas CB, Winton-Brown T, Burgess N, Fazio T, Velakoulis D, Desmond P, Venkatraman V, De Jong G, Walterfang M.   +10 more
europepmc   +1 more source

Carnitine, Amino Acids, Vitamins, and Hematological Status in Children with Classical Phenylketonuria: A Case-Control Study. [PDF]

Nutrients
Arslan S, Dişci E.
europepmc   +1 more source

The Simplified Diet for PKU: Practices of Swedish Metabolic Dietitians. [PDF]

Nutrients
Kanthe M, Widenberg Törnquist C, de Koning TJ.   +2 more
europepmc   +1 more source

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk. [PDF]

Genes (Basel)
Tummolo A, Tabaku O, Meneleo E, Pierri CL, De Grassi A, Di Tullio V, Paterno G, De Giovanni D.   +7 more
europepmc   +1 more source