Results 81 to 90 of about 7,455 (171)

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

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

Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature review. [PDF]

Orphanet J Rare Dis
O'Sullivan F, Tomazos I, van Spronsen FJ, Szabo SM, Venkataraman M, Huria L, Smith N, Molony L, Ingalls K, Somera-Molina K, Zhang R, Harding CO.   +11 more
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

A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristics. [PDF]

Orphanet J Rare Dis
Balci MC, Kor D, Yildiz Y, Karaca M, Bulut FD, Kahraman AB, Yesil A, Burgac E, Ciki K, Selamioglu A, Koseci B, Durmus A, Kaplan I, Kara E, Mungan HN, Sivri S, Gokcay GF, Tokatli A, Demirkol M, Coskun T, Ozalp I.   +20 more
europepmc   +1 more source

Nutritional management of the female with phenylketonuria during pregnancy

, 1977
SM Pueschel, Cindy Hum, Mary Andrews
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

The Treatment of Phenylketonuria [PDF]

Proceedings of the Royal Society of Medicine, 1958
Margaret E. R. Stoneman, F. S. W. Brimblecombe   +1 more
openaire   +3 more sources

Ex Vivo Osteoclastogenesis from Peripheral Blood Mononuclear Cells Is Unchanged in Adults with Phenylketonuria, Regardless of Dietary Compliance. [PDF]

Int J Mol Sci
Hanusch B, Schlegtendal A, Lücke T, Sinningen K.   +3 more
europepmc   +1 more source