Results 101 to 110 of about 1,229 (164)

Adenovirus Vector-Mediated In Vivo Knock-in Treatment of Neonatal Phenylketonuria Mice Using Terminally Cleaved Donor DNA. [PDF]

J Gene Med
Yamaji M, Tabata H, Nakamura M, Fuse R, Okada T, Ohba SI, Ohishi T, Kawada M, Saito I, Sato S, Nakanishi T.   +10 more
europepmc   +1 more source

Nutritional Practices and Knowledge of Patients with Phenylketonuria. [PDF]

Nutrients
Kaloteraki E, Pardali EC, Poulimeneas D, Mylona V, Fotiadou E, Papa K, Gioxari A, Spilioti M, Bogdanos DP, Grammatikopoulou MG.   +9 more
europepmc   +1 more source

Multicenter study on long-term growth in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Stanescu S, Belanger-Quintana A, Rocha JC, Almeida MF, Ahring K, Dokoupil K, Lammardo AM, van Dam E, Muriel A, MacDonald A, ENEP group.   +10 more
europepmc   +1 more source

Gut Microbiota and Metabolic Modulation by Slow-Release Protein Substitutes in Phenylketonuria: Findings from the PREMP Study. [PDF]

Nutrients
Tosi M, Marsiglia MD, Ottaviano E, Parolisi S, Zuvadelli J, Ancona S, Ceccarani C, Carbone MT, Cefalo G, Borghi E, Verduci E.   +10 more
europepmc   +1 more source

A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children. [PDF]

Sci Rep
Yahia S, El-Gilany AH, Magdy RM, Bebars GM, Fadle YS, Dawoud H, ELfeil NS, Moussa MM, Assy R, Sadek AA, Abdelmoneim Z.   +10 more
europepmc   +1 more source

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Phenylketonuria

The Lancet, 2010
Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in ...
Blau, Nenad, van Spronsen, Francjan J, Levy, Harvey L   +2 more
openaire   +4 more sources

Genetics of Phenylketonuria: Heterozygosity for phenylketonuria

Nature, 1967
The first article deals with the problem of using the response to injected phenylalanine to determine whether or not the subject is heterozygous for phenylketonuria. The second article suggests a third allele on the phenylketonuria locus, the corresponding enzyme having a higher affinity for phenylalanine than has the “normal” enzyme.
L I, Woolf, W I, Cranston, B L, Goodwin
openaire   +2 more sources

Autism and Phenylketonuria

Journal of Autism and Developmental Disorders, 2003
Phenylketonuria (PKU) has been also reported in children with infantile autism (IA); however, the frequency of this association is variably reported. Patients with various forms of hyperphenylalaninemia (HPA) were evaluated applying two methods: the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS). A total of 243
BAIELLI S, PAVONE L, MELI C, FIUMARA, Agata, COLEMAN M.   +4 more
openaire   +3 more sources

Maternal Phenylketonuria

Obstetrical & Gynecological Survey, 1986
AbstractPregnant women with untreated phenylketonuria (PKU) with blood phenylalanine levels greater than 1200 µmol/L usually give birth to offspring with congenital birth defects, including microcephaly, cardiac defects and mental retardation. According to Mabry and Levy, hyperphenylalaninaemic (HPA) women with blood phenylalanine levels between 600 ...
R, Koch, E G, Friedman, E, Wenz, K, Jew, C, Crowley, G, Donnell   +5 more
openaire   +2 more sources

Phenylketonuria and scleroderma

The Journal of Pediatrics, 1968
A diagnosis of scleroderma and phenylketonuria was made in an 18-month-old girl. This is the third recorded incidence of the association of these two disorders. Following institution of a low phenylalanine diet, there was softening of the severe sclerodermatous lesions on the trunk and lower extremities, although new lesions have slowly developed on ...
H K, Kornreich, K N, Shaw, R, Koch, V, Hanson   +3 more
openaire   +2 more sources