Results 121 to 130 of about 73,449 (206)

Correction: Donnelly et al. A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 7. [PDF]

Int J Neonatal Screen
Donnelly C, Estrella L, Ginevic I, Ganesh J.   +3 more
europepmc   +1 more source

Mild hyperphenylalaninemia [PDF]

, 2020
openaire   +1 more source

Attenuation of advanced atherosclerosis and aortic aneurysm in hph-1/apoE DKO mice by folic acid and DHFR overexpression. [PDF]

Front Physiol
Zhang Y, Siu KL, Huang K, Huang Y, Cai H.   +4 more
europepmc   +1 more source

Correction: <i>Work participation and disability pension after work-related PTSD: trajectories and impact of occupation</i>. [PDF]

Occup Environ Med
europepmc   +1 more source

Editorial: Synaptic Plasticity and the Neurobiology of Learning and Memory. [PDF]

Cells
Panuccio A, Petrosini L, Berretta E.
europepmc   +1 more source

Phenylketonuria Alters the Prefrontal Cortex Genome-Wide Expression Profile Regardless of the Mouse Genetic Background. [PDF]

Cells
Fiori E, Guzzo SM, Lo Iacono L, Orsini C, Cabib S, Andolina D, Rossi L, Nardecchia F, Leuzzi V, Pascucci T.   +9 more
europepmc   +1 more source

Concurrent phenylketonuria and immune-mediated central nervous system involvement: a case report highlighting rare co-occurrence. [PDF]

BMC Neurol
Zhao J, Yan H, Li Z, Wang X, Wang Y, Zhang X.   +5 more
europepmc   +1 more source

Comment on 'Clinical Presentation and Early Outcomes of Congenital Endocrine Salt-Wasting Syndromes Unrelated to 21-Hydroxylase Deficiency'. [PDF]

Endocrinol Diabetes Metab
Tariq G, Khan MF, Malghalara.
europepmc   +1 more source

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