Results 141 to 150 of about 68,473 (259)

DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAH enu2 mouse model of phenylketonuria

, 2016
Steven F. Dobrowolski, James Lyons‐Weiler, Kayla Spridik, Jerry Vockley, Kristen J. Skvorak, Amy Biery   +5 more
openalex   +2 more sources

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics. [PDF]

Orphanet J Rare Dis
Balci MC, Kor D, Yildiz Y, Karaca M, Bulut FD, Kahraman AB, Yesil A, Burgac E, Ciki K, Selamioglu A, Koseci B, Durmus A, Kaplan I, Kara E, Mungan HN, Sivri S, Gokcay GF, Tokatli A, Demirkol M, Coskun T, Ozalp I.   +20 more
europepmc   +1 more source

Advancing Gene Therapy for Phenylketonuria: From Precision Editing to Clinical Translation. [PDF]

Int J Mol Sci
Yu I, Jeong J.
europepmc   +1 more source

Branched Chain Amino Acids Improve Complex Maze Learning in Rat Offspring Prenatally Exposed to Hyperphenylalaninemia: Implications for Maternal Phenylketonuria [PDF]

, 1989
Charles V. Vorhees, Helen K. Berry
openalex   +1 more source

Retraction: Screening for Postpartum Post-traumatic Stress Disorder (PTSD) Using the Kurdish Version of the PTSD Checklist for DSM-5 (PCL-5). [PDF]

Cureus
Ibrahim RO, Alalaf S, Elebiary N.
europepmc   +1 more source

Hyperphenylalaninemia syndromes: Current status of diagnosis and management.

, 1988
Nobutake Matsuo
openalex   +2 more sources

Monitoring Treatment in Tetrahydrobiopterin Deficiency [PDF]

, 2017
Blau, N., Ferraris, S., Guardamagna, O., Parrella, T., Ponzone, A., Ponzone, R., Spada, M.   +6 more
core  

Hyperphenylalaninemia with High Levels of 7-Biopterin is Associated with Mutations in the PCBD Gene Encoding the Bifunctional Protein Pterin-4a-Carbinolamine Dehydratase and Transcriptional Coactivator (DCoH) [PDF]

, 1998
Beat Thöny, F. Neuheiser, L. Kierat, M. Blaskovics, Pamela Arn, Patrick Ferreira, Igor Rebrin, June E. Ayling, Nenad Blau   +8 more
openalex   +1 more source

Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry. [PDF]

Sci Rep
Han D, Tao Y, Li J, Wang L, Song W, Li X.   +5 more
europepmc   +1 more source

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

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