Results 121 to 130 of about 19,693 (207)

Phenylketonuria in Saudi Arabia: An Overview of Diagnosis, Genetics, and Therapeutic Strategies. [PDF]

Biology (Basel)
Tayeb FJ, Mir R, Alatawi S.
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

Invisible but central: family caregiving as the hidden infrastructure of pediatric PKU-an integrative review. [PDF]

Syst Rev
Słomińska D, Kałużny Ł, Walkowiak D.   +2 more
europepmc   +1 more source

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023. [PDF]

Orphanet J Rare Dis
Boehnke A, Müller LM, Heidecke C, Benson A, Neubauer AS, Muntau AC.   +5 more
europepmc   +1 more source

Decentralized rare disease studies in Germany: first results and hurdles of secondary use of patient data. [PDF]

BMC Med Inform Decis Mak
Zoch M, Gierschner C, Weidner J, Sedlmayr M, Müller G, Choukair D, Hoffmann GF, Toepfner N, Berner R, Prasser F, Schepers J, Hebestreit H.   +11 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

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 more
europepmc   +1 more source

Health-related quality of life and its influencing factors in Chinese patients with phenylketonuria. [PDF]

Front Pediatr
Ding H, Zheng J, Zhai T, Li L, Guo J, Zhao K.   +5 more
europepmc   +1 more source

Mapping the Severity of Phenylalanine Hydroxylase Deficiency. [PDF]

J Inherit Metab Dis
Haitjema S, van Steenis EM, Lubout CMA, Heiner-Fokkema MR, Zschocke J, van Spronsen FJ.   +5 more
europepmc   +1 more source

Peking University Cold Aerosol Flow Tube (PKU-CAT): Development and Characterization for Studying Wintertime Secondary Organic Aerosol Formation. [PDF]

ACS Environ Au
Wang J, Kuwata M, Liu Y.
europepmc   +1 more source