Results 141 to 150 of about 7,613 (182)

Effect of stopping low-phenylalanine diet on intellectual progress of children with phenylketonuria. [PDF]

, 1978
I Smith, M. E. Lobascher, Jamie Stevenson, O. Wolff, H. Schmidt, S. Grubel-Kaiser, Horst Bickel   +6 more
openalex   +1 more source

Performance of the Egoo test for phenylalanine measurement in females with phenylketonuria. [PDF]

Orphanet J Rare Dis
Schoen MS, Nath SV, Singh RH.
europepmc   +1 more source

The influence of professionals' personal views and values in the development of guidelines for rare diseases: an example from phenylketonuria. [PDF]

Orphanet J Rare Dis
van Wegberg AMJ, Romani C, van Spronsen FJ.   +2 more
europepmc   +1 more source

CLASH: Complementary Linkage with Anchoring and Scoring for Heterogeneous biomolecular and clinical data [PDF]

A Viganò, CA Hidalgo, D Jenkins, D Kim, D Kim, D Kim, D-S Lee, DH Thiel van, E Capobianco, G Casella, GA Pavlopoulos, H Förster, H Shin, HU Kim, Hyunjung Shin, J Benson Jr, J Kim, K Fukunaga, K Sun, K Sun, K Tsuda, K-I Goh, KH Ambert, Kyungwon Lee, L Tosiello, M Altaf-Ul-Amin, M Dedeoglu, M Žitnik, MA Yıldırım, MG Traber, Myungjun Kim, RM Piro, S Penckofer, SR Hayman, UC Ghoshal, X Zhou, Y Li, Yonghyun Nam   +37 more
core   +1 more source

Growth assessment in children with phenylketonuria. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Ibrahim BA, Abdullah WH, Akram NN.
europepmc   +1 more source

Assesment of pathogenic variants in the PAH gene and genotype-phenotype correlation in Phenylketonuria patients from Turkey. [PDF]

Özgür Balasar, Banu Kadıoğlu Yılmaz, Müşerref BAŞDEMİRCİ, Hatice Koçak Eker, Büşra ESER ÇAVDARTEPE, Levent Şi̇mşek, Ebru Tunçez, Fahrettin Duymus   +7 more
openalex   +1 more source

Feeding Models in Classical Phenylketonuria: Do They Make a Difference in Infant Sleep? [PDF]

Nutrients
Burgaç E, Çiçek Türköz E, Barutçu A, Bulut FD, Kor D, Kartal T, Uzunoğlu S, Kara E, Köseci B, Kaplan İ, Totik N, Onenli Mungan N.   +11 more
europepmc   +1 more source

Maternal Phenylketonuria (MPKU).

, 1986
W.E. Schoonheyt, Will Hanley, Joe T.R. Clarke, Valerie Austin, D.A. Howe   +4 more
openalex   +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

Sapropterin Dihydrochloride Responsiveness in Phenylketonuria: A Case Series Exploring Gaps in Comprehensive Patient Monitoring. [PDF]

Nutrients
Lo Bianco M, Leonardi R, Migliore A, Moliteo E, Sciacca M, Rinella S, Pappalardo MG, La Spina L, Messina M, Iacobacci R, Ruggieri M, Meli C, Polizzi A.   +12 more
europepmc   +1 more source