Results 1 to 10 of about 1,551 (187)

Diagnostic Challenges and Outcome of Classical Phenylketonuria in a Resource-Constrained Middle Eastern Country. [PDF]

Int J Pediatr
Background: Scarce data on classical phenylketonuria diagnosis and outcome in low‐income Middle Eastern countries is available. The effect of phenylketonuria diet on growth parameters is still controversial. This 15‐year retrospective study is aimed at examining the diagnosis, outcome, and growth of classical phenylketonuria patients following a ...
Yazbeck N, Zalzal RN, El Oueichek F, Samaha J, Barhoumi A, Karam PE.   +5 more
europepmc   +2 more sources

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? [PDF]

Nutrients
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A.   +28 more
europepmc   +1 more source

The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies. [PDF]

Nutrients
Gautiero C, Scala I, Esposito G, Coppola MR, Cacciapuoti N, Fisco M, Ruoppolo M, Strisciuglio P, Parenti G, Guida B.   +9 more
europepmc   +1 more source

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity. [PDF]

Nutrients
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A.   +28 more
europepmc   +1 more source

Phenylketonuria as an Adherence Disease. [PDF]

Patient Prefer Adherence
Reach G.
europepmc   +1 more source

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up. [PDF]

Nutrients
Consentino MC, La Spina L, Meli C, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD.   +12 more
europepmc   +1 more source

The Role of GCH1 Deficiency and Tetrahydrobiopterin in Mental Health. [PDF]

Int J Mol Sci
Williams GE, Hausman-Cohen S, Sotos M, Gutierrez E, Bilich C, Mueller FW, Jagshi S.   +6 more
europepmc   +1 more source

Oral Sapropterin Increases Reflex Vasodilation but Not Cardiac Output During Passive Heating in Older Adults

, 2016
L. McMahon, Jody L. Greaney, Anna E. Stanhewicz, Lacy M. Alexander, W. Larry Kenney   +4 more
openalex   +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

Navigating adulthood with PKU: metabolic outcomes, quality of life, and mental health 4.5 years post-transition. [PDF]

Orphanet J Rare Dis
Albers A, Kuniß N, Kloos C, Wolf G, Schmidt S, Müller N.   +5 more
europepmc   +1 more source