Results 141 to 150 of about 26,955 (257)

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria

Molecular Therapy: Methods & Clinical Development, 2019
Daelyn Y Richards, S. Winn, S. Dudley, Sean Nygaard, Taylor L. Mighell, M. Grompe, C. Harding   +6 more
semanticscholar   +1 more source

Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of Metabolism. [PDF]

JIMD Rep
Selvanathan A, Nazir S, van Wyk K, Simpson E, Holmes V, Hutton R, White F, Schwahn BC.   +7 more
europepmc   +1 more source

Liquid-chromatographic direct determination of phenylalanine and tyrosine in serum or plasma, with application to patients with phenylketonuria. [PDF]

, 1982
Mary A. Hilton
openalex   +1 more source

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature. [PDF]

Nutrients
Leone G, Meli C, Falsaperla R, Gullo F, Licciardello L, La Spina L, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +15 more
europepmc   +1 more source

Net protein utilization determined by rat bioassay of a protein hydrolysate and a diet for children with phenylketonuria [PDF]

, 1985
E Kindt, Halvor Holm, S Halvorsen, Sverre O. Lie   +3 more
openalex   +1 more source

GT to AT transition at a splice donor site causes skipping of the preceding exon in Phenylketonuria [PDF]

, 1987
Joshua Marvit, Anthony G. DiLella, Kelly A. Brayton, Fred D. Ledley, Kathryn Robson, S.L.C. Woo   +5 more
openalex   +1 more source

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

Genetics in Medicine, 2018
S. Garbade, Nan-ping Shen, N. Himmelreich, D. Haas, F. Trefz, G. Hoffmann, P. Burgard, N. Blau   +7 more
semanticscholar   +1 more source

The Influence of Phenylalanine Fluctuations and Intake on a 24 h Sapropterin Responsiveness Test in Patients with Phenylketonuria. [PDF]

Children (Basel)
Nunes AJ, Franceschetto BF, da Gama L, Poloni S, Refosco LF, Tonon T, Monteiro V, Tresbach RH, Sperb-Ludwig F, Maillot F, Schwartz IVD.   +10 more
europepmc   +1 more source

Living with phenylketonuria in adulthood: The PKU ATTITUDE study

Molecular Genetics and Metabolism Reports, 2018
C. Cazzorla, G. Bensi, Giacomo Biasucci, V. Leuzzi, F. Manti, Antonella Musumeci, F. Papadia, Vera Stoppioni, Albina Tummolo, M. Vendemiale, G. Polo, A. Burlina   +11 more
semanticscholar   +1 more source

Therapeutic Opportunities for Food Supplements in Neurodegenerative Diseases. [PDF]

Nutrients
Praticò AD.
europepmc   +1 more source