Results 1 to 10 of about 3,028 (99)

MATERNAL PHENYLKETONURIA [PDF]

Lancet, The, 1979
Two cases of maternal phenylketonuria are presented. The first woman, untreated, had 3 children. Her first child was of normal intelligence but had serious personality problems. The second had a major cardiac abnormality incompatible with life. The third had phenylketonuria and was successfully treated from early infancy.
Neilr M Buist
exaly   +8 more sources

First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child [PDF]

Molecular Genetics and Metabolism Reports, 2019
Hiromi Nyuzuki, Taro Yamazaki, Akira Ohtake   +2 more
exaly   +2 more sources

Maternal phenylketonuria [PDF]

Orvosi Hetilap, 2013
Elevated maternal phenylalanine levels during pregnancy are teratogenic, and may result in embryo-foetopathy, which could lead to stillbirth, significant psychomotor handicaps and birth defects. This foetal damage is known as maternal phenylketonuria.
János, Bókay, Erika, Kiss, Erika, Simon, László, Szőnyi   +3 more
openaire   +2 more sources

Maternal Phenylketonuria [PDF]

Pediatrics, 2008
Elevated maternal phenylalanine concentrations during pregnancy are teratogenic and may result in growth retardation, microcephaly, significant developmental delays, and birth defects in the offspring of women with poorly controlled phenylketonuria during pregnancy.
openaire   +1 more source

Maternal Phenylketonuria [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 1998
H, Wilkinson, I B, Holbrook
openaire   +4 more sources

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy. [PDF]

Orphanet J Rare Dis, 2021
Rohde C, Thiele AG, Baerwald C, Ascherl RG, Lier D, Och U, Heller C, Jung A, Schönherr K, Joerg-Streller M, Luttat S, Matzgen S, Winkler T, Rosenbaum-Fabian S, Joos O, Beblo S.   +15 more
europepmc   +1 more source

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

Pediatr Res, 2018
Zeile WL, McCune HC, Musson DG, O'Donnell B, O'Neill CA, Tsuruda LS, Zori RT, Laipis PJ.   +7 more
europepmc   +1 more source

MATERNAL PHENYLKETONURIA

Medical Journal of Australia, 1977
B, Golabek, B, Dawydzik
  +7 more sources

Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report. [PDF]

Mol Genet Metab Rep, 2017
Pinto A, Almeida MF, Cunha A, Carmona C, Rocha S, Guimas A, Ribeiro R, Mota CR, Martins E, MacDonald A, Rocha JC.   +10 more
europepmc   +1 more source

Maternal phenylketonuria.

Wiadomosci lekarskie (Warsaw, Poland : 1960), 2009
The maternal phenylketonuria (MPKU) syndrome is an example of biochemical teratogenesis caused by high phenylalanine concentrations in serum of a pregnant woman (over 360 micromol/L). Active transport through the placenta increases 1.5-fold the phenylalanine level in the child's blood as compared to concentrations recorded in the mother.
Justyna, Paprocka, Ewa, Jamroz, Martyna, Wiktor, Elzbieta, Marszał   +3 more
openaire   +1 more source