Results 151 to 160 of about 68,473 (259)

Hyperphenylalaninemia in the Czech Republic: Genotype–phenotype correlations and in silico analysis of novel missense mutations

, 2013
Kamila Réblová, Zuzana Hrubá, Dagmar Procházková, Renata Pazdírková, Slávka Pouchlá, Lenka Fajkusová   +5 more
openalex   +2 more sources

Experimental Animal Models of Phenylketonuria: Pros and Cons. [PDF]

Int J Mol Sci
Bobrova NA, Lyubimova DI, Mishina DM, Lobanova VS, Valieva SI, Mityaeva ON, Feoktistova SG, Volchkov PY.   +7 more
europepmc   +1 more source

Primapterinuria: A Clinical Update [PDF]

, 2017
Blaskovics, M. E., Blau, N., Giudici, T. A.   +2 more
core  

Urgent need for newborn targeted sequencing screening technology in Shandong Province, China. [PDF]

World J Pediatr
Mu JL, Sun M, Li YL, Li PP, Zou H.
europepmc   +1 more source

Balancing personalized medicine and scalability in base editing for phenylketonuria. [PDF]

Mol Ther Nucleic Acids
Nicosia L.
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

Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria [PDF]

core   +1 more source

Hyperphenylalaninemia caused by dihydropteridine reductase deficiency in children receiving chemotherapy for acute lymphoblastic leukemia

, 1989
Nenad Blau, H.‐Ch. Curtius, L. Kierat, D. Leupold, E. Kohne   +4 more
openalex   +1 more source

A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency. [PDF]

Mol Syndromol
Peker A, Uzuner SY, Clark ÖA, Demirelli GD, Paksoy BA, Soyuçen E, Mıhçı E.   +6 more
europepmc   +1 more source

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024. [PDF]

Front Pediatr
Ou MM, Sun CT, Zhang L, Kong LL, Zhang LX, Zheng J, Zhang PY, Wang YM, Lin XF, Yang X.   +9 more
europepmc   +1 more source