Results 141 to 150 of about 2,204 (208)

High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU) [PDF]

, 2015
Shelley R. Winn, Tanja Scherer, Beat Thöny, Cary O. Harding   +3 more
openalex   +1 more source

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified. [PDF]

Int J Neonatal Screen
Wong TS, Wong SSN, Kwok AMK, Wu H, Law HF, Lam S, Yeung MCW, Chan TCH, Leung G, Mak CM, Belaramani KM, Fung CW.   +11 more
europepmc   +1 more source

Sapropterin Treatment Prevents Congenital Heart Defects Induced by Pregestational Diabetes in Mice [PDF]

, 2018
Anish Engineer, Tana Saiyin, Xiangru Lu, Andrew S. Kucey, Bradley L. Urquhart, Thomas A. Drysdale, Kambiz Norozi, Qingping Feng   +7 more
openalex   +1 more source

A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation

, 2013
Can Fıçıcıoğlu, Jacob G. Dubroff, Thomas Gilovich, Paul R. Gallagher, Jessica Burfield, Christie Hussa, Rebecca Randall, Hongming Zhuang   +7 more
openalex   +1 more source

Phenylketonuria as an Adherence Disease. [PDF]

Patient Prefer Adherence
Reach G.
europepmc   +1 more source

Two Cases of 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Case Report and Literature Review. [PDF]

Children (Basel), 2023
Sur LM, Mager MA, Bolunduţ AC, Trifa AP, Anton-Păduraru DT.   +4 more
europepmc   +1 more source

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry

, 2014
Dorothy K. Grange, Richard E. Hillman, Barbara K. Burton, Shoji Yano, Jerry Vockley, Chin-To Fong, J. Hunt, John J. Mahoney, Jessica Cohen‐Pfeffer   +8 more
openalex   +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  

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies. [PDF]

Nutrients
Gautiero C, Scala I, Esposito G, Coppola MR, Cacciapuoti N, Fisco M, Ruoppolo M, Strisciuglio P, Parenti G, Guida B.   +9 more
europepmc   +1 more source

A Prospective Population Pharmacokinetic Analysis of Sapropterin Dihydrochloride in Infants and Young Children with Phenylketonuria [PDF]

, 2014
Yulan Qi, Diane R. Mould, Huiyu Zhou, Markus Meriläinen, Donald G. Musson   +4 more
openalex   +1 more source