Results 201 to 210 of about 36,743 (252)

Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant. [PDF]

Sci Rep
Bik-Multanowski M, Bobis-Wozowicz S, Piejko M, Madetko-Talowska A, Szewczyk K, Kopaczka-Koziol K, Lasota S, Jankowska U, Skupien-Rabian B, Korycinska-Chaaban D, Krzywdzinska-Rogowska A, Steinlein OK.   +11 more
europepmc   +1 more source

The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening. [PDF]

Nutrients
Verduci E, Tosi M, Zuvadelli J, Giorda S, Biasucci G, Leuzzi V, Spada M, Burlina A, Dionisi Vici C, PKU Expert Group.   +9 more
europepmc   +1 more source

Characterization of Treatment Utilization in a Metabolic Genetics Clinic. [PDF]

J Pediatr Pharmacol Ther
Riedy M, Briggs J, Huang T.
europepmc   +1 more source

Unveiling the phenylalanine coaggregation mechanism for a deep understanding of phenylketonuria disease. [PDF]

Sci Rep
Barazorda-Ccahuana HL, Mas F, Madurga S.
europepmc   +1 more source

Defining tetrahydrobiopterin (BH4)-responsiveness in PKU [PDF]

, 2018
Blau, Nenad
core  

Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria. [PDF]

Orphanet J Rare Dis
Schoen MS, Nath SV, Singh RH.
europepmc   +1 more source

Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring. [PDF]

Nutrients
Lo Bianco M, Leonardi R, Migliore A, Moliteo E, Sciacca M, Rinella S, Pappalardo MG, La Spina L, Messina M, Iacobacci R, Ruggieri M, Meli C, Polizzi A.   +12 more
europepmc   +1 more source

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 more
europepmc   +1 more source

Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns. [PDF]

Commun Med (Lond)
Hao C, Hu X, Guo R, Qi Z, Xie L, Jin F, Li H, Ni X, Li W.   +8 more
europepmc   +1 more source