Results 141 to 150 of about 7,438 (233)

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

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

Phenylketonuria. [PDF]

BMJ, 1968
openaire   +2 more sources

Emphasis on the importance of comprehensive clinical and genetic analysis - spinal muscular atrophy combined with phenylketonuria: A case report. [PDF]

Medicine (Baltimore)
Ma K, Wang D, Hu W, Wang J, Yu C, Cui Z, Liu F.   +6 more
europepmc   +1 more source

First successful outcomes of pegvaliase (PALYNZIQ) in children. [PDF]

BMC Med Genomics
Alfadhel M, Albarakati R.
europepmc   +1 more source

The Effects of Hyperphenylalaninemia on Fetal Development: a New Animal Model of Maternal Phenylketonuria [PDF]

, 1982
Clifford A. Brass, Charles E. Isaacs, Ruth McChesney, Olga Greengard   +3 more
openalex   +1 more source

Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model. [PDF]

Orphanet J Rare Dis
Wang S, Shen M, Pang B, Zhou B, Yuan Y, Lu M, Deng X, Yang M, Liu S, Wang Q, Xue M, Xia Q, Zhang Z.   +12 more
europepmc   +1 more source

Detection of Hepatic Phenylalanine 4-Hydroxylase in Classical Phenylketonuria

, 1973
Paul A. Friedman, Daniel B. Fisher, Ellen S. Kang, Seymour Kaufman   +3 more
openalex   +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

What is known about patients' quality of life with Phenylketonuria and their caregivers? A scoping review. [PDF]

Orphanet J Rare Dis
Remor E, Gabe KM, Teruya KI, Doederlein Schwartz IV.   +3 more
europepmc   +1 more source