Results 171 to 180 of about 25,909 (224)

PHENYLKETONURIA.

Indian pediatrics, 1996
W R, CENTERWALL, S, KAPUR
openaire   +3 more sources

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

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

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

Funktion und Fehlfunktion der Phenylalaninhydroxylase in Abhängigkeit von Genotyp, metabolischem Status und Therapie mit dem pharmakologischen Chaperon Tetrahydrobiopterin [PDF]

, 2012
Staudigl, Michael
core  

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

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

Correction: Endogenous tetrahydrobiopterin in humans: circadian rhythm, sex, race, age, and disease status. [PDF]

Front Pharmacol
Gao L, Smith N, Kong R.
europepmc   +1 more source