Phenylketonuria, Maternal
|
0.590 |
Biomarker
|
disease |
BEFREE |
Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy.
|
30416967 |
2018 |
Phenylketonuria, Maternal
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
A 31 year old MPKU female with classical PKU (mutations P281L/P281L), diagnosed by newborn screening, had a lifelong history of poor metabolic control.
|
29085781 |
2017 |
Phenylketonuria, Maternal
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
Although a mouse model of PKU, BTBR Pah(enu2), has been available for 20 years, it has not been well utilized for studying MPKU.
|
22951387 |
2012 |
Phenylketonuria, Maternal
|
0.590 |
Biomarker
|
disease |
MGD |
Mechanisms regulating superoxide generation in experimental models of phenylketonuria: an essential role of NADPH oxidase.
|
21640623 |
2011 |
Phenylketonuria, Maternal
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome.
|
14654659 |
2003 |
Phenylketonuria, Maternal
|
0.590 |
Biomarker
|
disease |
MGD |
Deficits in brain serotonin synthesis in a genetic mouse model of phenylketonuria.
|
12499868 |
2002 |
Phenylketonuria, Maternal
|
0.590 |
Biomarker
|
disease |
MGD |
Cognitive deficits in a genetic mouse model of the most common biochemical cause of human mental retardation.
|
10407053 |
1999 |
Phenylketonuria, Maternal
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study (MPKUCS).
|
10429004 |
1999 |
Phenylketonuria, Maternal
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.
|
8659548 |
1996 |
Phenylketonuria, Maternal
|
0.590 |
Biomarker
|
disease |
MGD |
Mouse models of human phenylketonuria.
|
8375656 |
1993 |
Phenylketonuria, Maternal
|
0.590 |
AlteredExpression
|
disease |
BEFREE |
This experience and review of the literature indicates that the residual liver phenylalanine hydroxylase activity of a nonphenylketonuric fetus offers little or no protection from damage in untreated maternal PKU.
|
1442884 |
1992 |
Phenylketonuria, Maternal
|
0.590 |
GermlineCausalMutation
|
disease |
ORPHANET |
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
|
1915502 |
1991 |
Phenylketonuria, Maternal
|
0.590 |
Biomarker
|
disease |
BEFREE |
The exact mechanism of fetal damage in maternal phenylketonuria (PKU) is uncertain and although the fetus is heterozygotic for the gene coding for phenylalanine hydroxylase its immature hepatic enzyme system may be the reason for its inability to deal adequately with transplacental phenylalanine uptake.
|
2622813 |
1989 |
Phenylketonuria, Maternal
|
0.590 |
GeneticVariation
|
disease |
BEFREE |
Maternal PKU syndrome in an exceptional family with unexpected PKU.
|
3116335 |
1987 |