Results 121 to 130 of about 7,599 (237)

7-Substituted Pterins: Formation in Carbinolamine Dehydratase Deficiency [PDF]

, 2017
Adler, C., Curtius, H.-C, Küster, T., Rebrin, I.   +3 more
core  

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders. [PDF]

Metab Brain Dis
Kuzucu FN, Kilic M, Sezer A, Has-Ozhan S, Yildiz H, Celen-Yoldas T, Onat FN, Uyanik M.   +7 more
europepmc   +1 more source

Total Protein Intake in Patients with PKU: Adequacy Evaluation According to the European PKU Guidelines from 2017. [PDF]

Nutrients, 2023
Gomes M, Almeida MF, Barbosa CS, Gama MI, Peres M, Pinto É, MacDonald A, Rocha JC.   +7 more
europepmc   +1 more source

Determination of Phenylalanine Hydroxylase Activity in Patients with Phenylketonuria and Hyperphenylalaninemia [PDF]

, 1975
K. Bartholomé, Peter Lutz, Horst Bickel
openalex   +1 more source

Assessing sleep habits in school-aged children with phenylketonuria: a comparative study. [PDF]

Eur J Pediatr
Mete Yeşil A, Akar HT, Yıldız Y, Sivri S, Özmert EN.   +4 more
europepmc   +1 more source

The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra

, 2019
Yajie Su, Huijun Wang, Nuerya Rejiafu, Bingbing Wu, Haili Jiang, Hongbo Chen, Ailan Xian, Yanyan Qian, Mingzhu Li, Yulan Lu, Yan Ren, Long Li, Wenhao Zhou   +12 more
openalex   +1 more source

A clinical epidemiologic study of hyperphenylalaninemia. [PDF]

, 1979
R M Wrona
openalex   +1 more source

Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. [PDF]

Orphanet J Rare Dis
Salarian L, Ilkhanipoor H, Amirhakimi A, Afshar Z, Nahid S, Moradi Ardekani F, Rahimi N, Yazdani N, Nikravesh A, Beyzaei Z, Moravej H.   +10 more
europepmc   +1 more source

Aromatic Acids in Urine of Healthy Infants, Persistent Hyperphenylalaninemia, and Phenylketonuria, before and after Phenylalanine Load [PDF]

, 1974
Silvana K. Rampini, J. A. Völlmin, Hans Rudolf Bosshard, M Müller, H.‐Ch. Curtius   +4 more
openalex   +1 more source

Development and validation of machine-learning models of diet management for hyperphenylalaninemia: a multicenter retrospective study. [PDF]

BMC Med
Su Y, Wang Y, He J, Wang H, A X, Jiang H, Lu W, Zhou W, Li L.   +8 more
europepmc   +1 more source