Results 201 to 210 of about 178,348 (314)

Effect of mutations at Cys²³⁷ on the activation state and activity of human phenylalanine hydroxylase [PDF]

, 1997
Per M. Knappskog, Aurora Martı́nez
openalex   +1 more source

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study. [PDF]

J Inherit Metab Dis
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ, KAMPER investigators.   +12 more
europepmc   +1 more source

Pyropheophytin a accompanies pheophytin a in darkened light grown cells of Euglena [PDF]

, 1981
Rüdiger, W., Scheer, Hugo, Schiff, J. A., Schoch, S., Siegelmann, H. W.   +4 more
core  

Deletion of a phenylalanine in the N-terminal region of human cytochrome P-45017α results in partial combined 17α-hydroxylase/17,20-lyase deficiency

, 1989
Toshihiko Yanase, Masaaki Kagimoto, Shingo Suzuki, Katsuko Hashiba, E R Simpson, Michael R. Waterman   +5 more
openalex   +1 more source

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3 [PDF]

, 1998
Cezary Żekanowski, B Cabalska, Piotr Borsuk, Jerzy Bal   +3 more
openalex   +1 more source

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. [PDF]

Mol Genet Metab
Christ SE, Arnold G, Lichter-Konecki U, Berry GT, Grange DK, Harding CO, Jurecki E, Levy H, Longo N, Morotti H, Sacharow S, Thomas J, White DA.   +12 more
europepmc   +1 more source

Ligand effects on the phosphorylation state of hepatic phenylalanine hydroxylase.

, 1984
Robert S. Phillips, Seymour Kaufman
openalex   +1 more source

Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria [PDF]

, 2000
Angelina Xavier Acosta, Wilson A. Silva, Teresa Maria de Jesus Ponte Carvalho, Marco A. Zago   +3 more
openalex   +1 more source

Bioenergetics of protein transport into mitochondria [PDF]

, 1988
Döhren, H. von, Jaenicke, L., Kleinkauf, Horst, Neupert, Walter, Pfanner, Nikolaus   +4 more
core  

Phenylketonuric Tetrahymena: phenylalanine hydroxylase mutants and other tyrosine auxotrophs.

, 1981
Y M Sanford, Eduardo Orias
openalex   +1 more source