Results 131 to 140 of about 7,455 (171)

Insurance Reimbursement for Special Foods and Phenylalanine Levels in Patients With PKU in China.

JAMA Netw Open
Wang B, Xia Y, Cheng M, Luo H, Xue L, Gong A, Liu X, Liao G, Song J, Ning K.   +9 more
europepmc   +1 more source

Genetically humanized phenylketonuria mouse model as a testing tool for human genome editing in fertilized eggs. [PDF]

J Inherit Metab Dis
Tsuji-Hosokawa A, Tsuchiya I, Shimizu K, Terao M, Yasuhara M, Miyamoto N, Kikuchi S, Ogawa Y, Nakamura K, Matsubara Y, Takada S.   +10 more
europepmc   +1 more source

Experimental Animal Models of Phenylketonuria: Pros and Cons. [PDF]

Int J Mol Sci
Bobrova NA, Lyubimova DI, Mishina DM, Lobanova VS, Valieva SI, Mityaeva ON, Feoktistova SG, Volchkov PY.   +7 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   +3 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.
W. I. Cranston, W. I. Cranston, B. L. Goodwin, L. I. Woolf   +3 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

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   +4 more sources

Breastfeeding in phenylketonuria

Acta Paediatrica, 1999
Eighty‐three infants with classical phenylketonuria have been born in Norway since 1979. The treatment of these children is centralized at the National Hospital in Oslo. Seventy‐four have been breastfed in combination with a phenylalanine‐free protein substitute.
R Lilje, K Motzfeldt, G Nylander
openaire   +2 more sources

Hypophosphatasia with phenylketonuria

Zeitschrift f�r Kinderheilkunde, 1974
Hypophosphatasia and phenylketonuria have been encountered in a 9-month-old male infant as two independent inborn errors of metabolism. The pathognomonic triad of bony demineralization, subnormal alkaline phosphatase levels and increased excretion of phosphoethanolamine established the diagnosis of hypophosphatasia.
Kenneth N. F. Shaw, Milan E. Blaskovics
openaire   +3 more sources