Results 71 to 80 of about 528,073 (147)

Importancia del diagnóstico precoz de fenilcetonuria en la mujer y del control de los niveles de fenilalanina en la gestación Importance of early diagnosis of phenylketonuria in women and control of phenylalanine levels during pregnancy

Nutrición Hospitalaria, 2012
La Fenilalanina Hidroxilasa (PAH) hidroxila a nivel hepático la fenilalanina proveniente de la dieta. Los fetos dependen para la hidroxilación de fenilalanina de la función materna, ya que por inmadurez fetal esta función no se adquiere hasta la semana ...
F. Arrieta Blanco, A. Bélanger Quintana, C. Vázquez Martínez, M. Martínez Pardo   +3 more
doaj  

Reproductive effects of maternal metabolic disorders: implications for pediatrics and obstetrics

The Turkish Journal of Pediatrics, 1996
The reproductive effects of metabolic disorders in women can be divided into four categories. The first of these is infertility. Galactosemia with its complication of ovarian failure is the disorder in this category.
H L Levy
doaj  

A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China

Pharmacogenomics and Personalized Medicine, 2023
An Jia,1,* Yi Lei,2,* Dan-Ping Liu,2 Lu Pan,2 Hui-Zhen Guan,2 Bicheng Yang1,2 1Medical School, Huanghe Science and Technology College, Zhengzhou, People’s Republic of China; 2Jiangxi Key Laboratory of Birth Defect Prevention and Control, Jiangxi ...
Jia A, Lei Y, Liu DP, Pan L, Guan HZ, Yang B   +5 more
doaj  

Transitioning of protein substitutes in patients with phenylketonuria: a pilot study

Frontiers in Nutrition
IntroductionIn phenylketonuria (PKU), there is limited information about transitioning between protein substitutes and the influencing factors, particularly in young children.
Ozlem Yilmaz Nas, Ozlem Yilmaz Nas, Ozlem Yilmaz Nas, Catherine Ashmore, Sharon Evans, Alex Pinto, Anne Daly, Nurcan Yabanci Ayhan, Anita MacDonald   +8 more
doaj   +1 more source

Phenylketonuria and pregnancy

, 2023
UVOD: Fenilketonurija je rijetka, nasljedna bolest koja nastaje zbog manjka enzima fenilalanin-hidroksilaze i toksičnog nakupljanja aminokiseline fenilalanina.
Benčić, Jelena
core   +2 more sources

Neurological images in phenylketonuria (PKU)

, 2014
Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients. Imaging
Juan Francisco Cabello
core   +1 more source

Neonatal neurological assessment of offspring in maternal phenylketonuria

, 1998
This study assesses the impact of prenatal and postnatal factors in maternal phenylketonuria (PKU). The Dubowitz Neurological Assessment of the Preterm and Full-term Newborn Infant was administered within the first 8 days of life to 56 offspring of women
Allred, E, H. Shifrin, R. Matalon, Hanley, W, R. Koch, B. Rouse, Waisbren, SE, Azen, C, P. Chang, F. de la Cruz, de la Cruz, F, Matalon, R, W. Hanley, S.E. Waisbren, Koch, R, C. Azen, H. L. Levy, E. Allred, Shifrin, H, Rouse, B, Levy, HL, Chang, P   +21 more
core   +2 more sources

Psychical problems of people suffering from phenylketonuria

, 2017
The bachelor thesis called "The psychical problems of people suffering from phenylketonuria" attempts to introduce the life of the people who were born with phenylketonuria diagnosis.
NENADÁLOVÁ, Lucie
core  

Cardiovascular defects among the progeny of mouse phenylketonuria females

, 1997
The full text of this article is not available in SOAR.In a genetic mouse model of human phenylketonuria we have examined the offspring of hyperphenylalaninemic mothers for the presence of cardiovascular defects, an important feature of the pathology of ...
Dyer, Charissa A., Gailis, Laimonis, Kirby, Margaret L., McDonald, J. David   +3 more
core  

Comparison of phenylketonuria and control groups.

, 2016
Comparison of phenylketonuria and control groups.
Priscila Thiago Dobbler (2852063), Luiz Fernando Würdig Roesch (471704), Roberta Hack Mendes (2852051), Victor Salter Pylro (2852066), Sheldon G Waugh (2852057), Filippo Vairo (2852060), Ida Vanessa Doederlein Schwartz (2852072), Felipe Pinheiro de Oliveira (2852054), Volker Mai (288569), Lilia Farret Refosco (2852069)   +9 more
core   +1 more source