Results 191 to 200 of about 42,228 (218)

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

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

The Improvement of Health Service Effectiveness and Efficiency Through the Implementation of Information Technology at PKU Muhammadiyah Mayong Jepara Hospital

Muhammad Iqbal, Vip Paramarta, Kosasih Kosasih   +2 more
openalex   +2 more sources

Hubungan citra tubuh dengan kesejahteraan spiritual pada pasien hemodialisis di RS PKU Muhammadiyah Gamping

, 2019
Tendy Ar Riqi, Sutejo Sutejo, Erika Nurwidayanti   +2 more
openalex   +2 more sources

Psychometric properties of perceived barriers to PKU treatment inventory in a Brazilian national sample. [PDF]

Orphanet J Rare Dis
Teruya KI, Remor E, Schwartz IVD.
europepmc   +1 more source

A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency. [PDF]

Mol Syndromol
Peker A, Uzuner SY, Clark ÖA, Demirelli GD, Paksoy BA, Soyuçen E, Mıhçı E.   +6 more
europepmc   +1 more source

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

Int J Mol Sci
Yu I, Jeong J.
europepmc   +1 more source

Base editing strategies for <i>in vivo</i> correction of two highly recurrent phenylketonuria variants. [PDF]

Mol Ther Nucleic Acids
Quigley A, Jindal I, Campion T, Rutherford D, Han Y, Quigley W, Qu P, Musunuru K, Ahrens-Nicklas R, Hong X, Wang X.   +10 more
europepmc   +1 more source

Risk of inadequate protein and micronutrient intakes in patients with PKU with an increased phe-tolerance: Impact of a micronutrient-dense protein substitute. [PDF]

Mol Genet Metab Rep
Rohde C, Hofman DL, Klawon I, Rutsch F, Rodenburg I, van Spronsen F, Thiele AG, Woestenenk W, Beblo S.   +8 more
europepmc   +1 more source

PKU STUDY

Küçükkatırcı Baykan, Hürmet
openalex   +1 more source