Results 121 to 130 of about 1,551 (187)

The Kuvan® Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin

, 2015
Friedrich K. Trefz, Ania C. Muntau, Florian B. Lagler, Flavie Moreau, Jan Alm, Alberto Burlina, Frank Rutsch, Amaya Bélanger‐Quintana, François Feillet, François Feillet   +9 more
openalex   +1 more source

Current state of the treatment landscape of phenylketonuria. [PDF]

Orphanet J Rare Dis
Nulmans I, Lequeue S, Desmet L, Neuckermans J, De Kock J.   +4 more
europepmc   +1 more source

Navigating Adolescence with PKU: Adherence, Metabolic Control, and Wellbeing in a UK Clinical Centre. [PDF]

Nutrients
Pinto A, Daly A, Evans S, Ashmore C, MacDonald A.   +4 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

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

Genetic and <i>in silico</i> functional characterization of a novel structural variant in the <i>PAH</i> gene by long-reads sequencing and structural modeling. [PDF]

Front Genet
Gallardo V, Gaete A, Maldonado J, Morales P, Peña A, Hamilton V, Faundes V, Santa María L.   +7 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

Two-Year Outcomes of Sapropterin Treatment in Children with Phenylketonuria: A Longitudinal Observational Study of Metabolic, Dietary, and Psychosocial Effects [PDF]

Ozlem Yilmaz Nas, Catherine Ashmore, Maria Inês Gama, Anne Daly, Sharon A. Evans, Alex Pinto, Emine Elibol, Anita MacDonald   +7 more
openalex   +1 more source

Lessons learned from 5 years of pegvaliase in US clinics: A case series. [PDF]

Mol Genet Metab Rep
Cooney E, Ammous Z, Bender T, Clague GE, Clifford M, Crutcher A, Davis-Keppen L, Havens K, Lah M, Sacharow S, Sanchez-Valle A, Vucko E, Wardley B, Wessenberg L, Andersson HC.   +14 more
europepmc   +1 more source

Developmental and Cognitive Outcomes in 342 Patients With Different Types of Hyperphenylalaninemia. [PDF]

Sisli Etfal Hastan Tip Bul
Yildiz SO, Mungan HNO, Kor D, Bulut FD, Yilmaz BS, Kilavuz S, Seydaoglu G.   +6 more
europepmc   +1 more source