Results 91 to 100 of about 1,393 (127)

Advancing Gene Therapy for Phenylketonuria: From Precision Editing to Clinical Translation. [PDF]

Int J Mol Sci
Yu I, Jeong J.
europepmc   +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

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study. [PDF]

J Inherit Metab Dis
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ, KAMPER investigators.   +12 more
europepmc   +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

Phenylalanine-tyrosine-catecholamine axis disorders: pathways, molecular diagnosis, therapeutics, and emerging translational monitoring technologies. [PDF]

Front Mol Biosci
Armas Samaniego MI, Arias-Almeida B, León-Piñeiros A, Figueroa JG, Vargas-Freire A, López M, Solano-Cueva N, Collantes JC, Huiracocha-Tutiven ML, Bigoni-Ordóñez GD, Pozo-Palacios JC, Romero V.   +11 more
europepmc   +1 more source

A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates. [PDF]

JIMD Rep
Jarrah O, Nouri M, Al Shamsi A.
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

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