Results 131 to 140 of about 529,955 (177)

The relationship between mothers' health literacy and their knowledge and attitudes towards newborn screening. [PDF]

J Community Genet
Sert S, Unsal A, Arslantas D, Arslangiray O, Dinleyici M.   +4 more
europepmc   +1 more source

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +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

The Prevention of Maternal Phenylketonuria (PKU) Syndrome: The Development and Evaluation of a Specific Training Program

Nutrients
Background: Maternal phenylketonuria (PKU) syndrome, leading to severe psychomotor retardation, microcephaly, cardiac defects and undergrowth, affects the unborn children of mothers with PKU with insufficient metabolic control during pregnancy.
Christoph Baerwald, Alena G Thiele
exaly   +4 more sources

Some of the next articles are maybe not open access.

Related searches:

Tetrahydrobiopterin and Maternal PKU

Molecular Genetics and Metabolism, 2005
A 29-year-old woman with PKU is presented, who was successfully treated with phenylalanine restriction as well as oral BH4 during this pregnancy, with a normal outcome. Her PAH mutation was R408W/F39L. Remarkably, the blood phenylalanine control was easily accomplished during this pregnancy.
Flemming Güttler, Richard Koch
exaly   +3 more sources

Maternal PKU: Defining Phenylalanine Tolerance and Its Variation During Pregnancy, According to Genetic Background

Nutrition, Metabolism and Cardiovascular Diseases, 2020
Background and aims: Phenylketonuria (PKU)-affected women may become pregnant, and dietary phenylalanine (Phe) intake must be adjusted according to Phe tolerance.
Alessandra Cassio, Maria Letizia Petroni, Lucia Brodosi   +2 more
exaly   +2 more sources

Maternal Phenylketonuria (PKU) — A Review

Clinical Biochemistry, 1987
This review points out the very high incidence of damage to the fetus in untreated maternal phenylketonuria (PKU). In classical cases, 92% of the offspring are mentally retarded, 73% have microcephaly, 40% are growth retarded at birth, and 12% have congenital anomalies.
J T Clarke, W B Hanley, J T R Clarke
exaly   +3 more sources

Fetal Ultrasonography in Maternal PKU.

Prenatal Diagnosis, 1996
Maternal phenylketonuria (PKU) is teratogenic and results in birth defects that include microcephaly, mental retardation, congenital heart disease, and intrauterine growth retardation. Treatment with a low phenylalanine diet can prevent or reduce the severity of the complications.
Beryl Benacerraf, Lawrence D Platt, Harvey L Levy   +2 more
exaly   +3 more sources

Psychosocial Issues and Outcomes in Maternal PKU

Molecular Genetics and Metabolism, 2010
Elevated phenylalanine (Phe) levels in pregnant women with PKU are teratogenic. Fetal damage due to elevated maternal Phe levels during pregnancy is known as maternal phenylketonuria (MPKU). The risk of birth defects in MPKU, including global developmental delays, microcephaly, congenital heart disease, and low birth weight, can be dramatically reduced
Friedrich Trefz, Susan E Waisbren
exaly   +3 more sources

Maternal PKU syndrome in an exceptional family with unexpected PKU

Journal of Inherited Metabolic Disease, 1986
AbstractMild maternal phenylketonuria needs treatment during pregnancy.
J B, De Klerk, S K, Wadman, H J, Dijkhuis, E E, Meuleman   +3 more
openaire   +2 more sources