Results 81 to 90 of about 528,073 (147)

Gliotic, nodular lesions in phenylketonuria: MR imaging findings

open access: yes, 1996
Phenylketonuria represents one of the amino acid disorders. In this condition, and in other aminoacidurias, findings in MR imaging studies are generally nonspecific. We report a patient with phenylketonuria who had nodular lesions lesions associated with
Sener, RN, R.Nuri Sener
core   +1 more source

School achievement in pupils with phenylketonuria

open access: yes, 2020
The diploma thesis called "School Achievement in Pupils with Phenylketonuria" tries to outline the lives of people who have to face up to a hereditary metabolic disorder - phenylketonuria, subjective and objective level of school success of these ...
NENADÁLOVÁ, Lucie
core  

Evaluating cardiac gene expression in maternal phenylketonuria offspring

open access: yes, 2006
Thesis (M.S.)--Wichita State University, College of Liberal Arts and Sciences, Dept. of Biological SciencesIncludes bibliographic references (leaves 33-39).Maternal phenylketonuria (MPKU) is a teratogenic syndrome, caused by development of offspring in a
McCoy, Jennifer Ellie
core  

Horseshoe kidney: Chance or embryopathy due to maternal phenylketonuria

open access: yesAnales de Pediatría (English Edition), 2019
Ana María Márquez Armenteros   +1 more
doaj   +1 more source

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report

open access: yesMolecular Genetics and Metabolism Reports, 2020
Fran Rohr   +4 more
doaj   +1 more source

Maternal phenylketonuria syndrome: studies in mice suggest a potential approach to a continuing problem. [PDF]

open access: yesPediatr Res, 2018
Zeile WL   +7 more
europepmc   +1 more source

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

open access: yes, 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  

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