Results 111 to 120 of about 17,994 (195)

Phenylalaninaemia or Classical Phenylketonuria (PKU)? [PDF]

Neuropediatrics, 1970
openaire   +2 more sources

Neuropsychological aspects in patients with phenylketonuria (PKU)

Acta Pediátrica de México, 2014
The evaluation of neuropsychological development in phenylketonuria patients must be considered in a comprehensive follow-up. This assessment should include all aspects of healthy development, including motor skills. This article outlines the results of a study whose objective was to show the relationship between age at onset of dietary treatment and ...
Carmen Sánchez, Sheribeth Rodríguez- Ríos   +1 more
openaire   +1 more source

New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride

, 2010
Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
core  

P-Splines for Longitudinal Data. Application to the Study of Children Growth with Phenylketonuria

, 2020
Phenylketonuria (PKU) is a rare disease that affects the growth of children and Hyperphenylalaninemia (HPA) is a medical condition which mostly results in PKU.
Rodríguez Álvarez, Carmen Cadarso Suarez, Ipek Guler, Francisco Gude Sampedro, María Xosé, Cesar Sanchez Sellero   +5 more
core  

Care of patients with Phenylketonuria (PKU) in Germany - a claims data analysis from 2013 to 2023. [PDF]

Orphanet J Rare Dis
Boehnke A, Müller LM, Heidecke C, Benson A, Neubauer AS, Muntau AC.   +5 more
europepmc   +1 more source

Abstract 2187: Phenylketonuria (PKU): A Review of the Diagnosis and Treatment of PKU

Journal of Biological Chemistry, 2023
Ruby Vela, Jamila Moneda, Ruby Ynalvez
openaire   +1 more source

The prevalence of phenylketonuria (PKU) and hyperphenylalaninemia (HPA) in Iran: a systematic review and meta-analysis. [PDF]

Orphanet J Rare Dis
Faraji S, Tabatabaee Jabali SM, Abolhasani MH, Amirkashani D, Haghdoost A, Shadnoush M, Talebi S, Ranjbar G, Talebi S, Mahmoudi M, Eshraghi P, Najafimoghadam T, Lesani Gouya B, Nematy M, Norouzy A.   +14 more
europepmc   +1 more source

Neurological images in phenylketonuria (PKU)

Acta Pediátrica de México, 2014
Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients.
openaire   +1 more source

Global Use of Casein Glycomacropeptide Protein Substitutes for Phenylketonuria (PKU): Health Professional Perspectives. [PDF]

Nutrients
Evans S, Singh R, Ahring K, Ashmore C, Daly A, Ford S, Gama MI, Giżewska M, Hill M, Ilgaz F, Jackson R, Newby C, Pinto A, Tosi M, Nas OY, Zuvadelli J, MacDonald A.   +16 more
europepmc   +1 more source

Nutrition, Microbiota and Role of Gut-Brain Axis in Subjects with Phenylketonuria (PKU): A Review. [PDF]

Nutrients, 2020
Verduci E, Carbone MT, Borghi E, Ottaviano E, Burlina A, Biasucci G.   +5 more
europepmc   +1 more source