Results 21 to 30 of about 528,073 (147)

Congenital Malformation and Maternal Phenylketonuria

Pediatric Neurology Briefs, 1987
Infants born to women with PKU are frequently mentally retarded, microcephalic, of low birthweight, and have various malformations.
J Gordon Millichap
doaj   +1 more source

Effect of experimental phenylketonuria on some organs of pregnant mothers of albino rats and their young’s during perinatal life. [PDF]

Journal of Bioscience and Applied Research, 2016
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.It results from a deficiency in phenylalanine hydroxylase, the enzyme catalyzing the conversion of ...
Hassan. I. Elsayyad, Hany A. Hefny, Mahmoud E. Mohallal, Hala . M. Ebied   +3 more
doaj   +1 more source

Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]

, 2012
Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko (144194), Thiery, Joachim, Berthold Koletzko, Bruegel Mathias, Linda Kortz, Kiess Wieland, Beblo, Skadi, Kortz, Linda, Kortz Linda, Linda Kortz (144188), Wieland Kiess (102793), Uta Ceglarek (144203), Skadi Beblo (144186), Claudia Matthies (144191), Kiess, Wieland, Bruegel, Mathias, Mathias Bruegel (144197), Wieland Kiess, Beblo Skadi, Ulrike Mütze, Koletzko Berthold, Skadi Beblo, Ceglarek Uta, Ceglarek, Uta, Ulrike Mütze (144183), Joachim Thiery, Joachim Thiery (66414), Rohde, Carmen, Matthies, Claudia, Matthies Claudia, Rohde Carmen, Uta Ceglarek, Mütze, Ulrike, Koletzko, Berthold, Mathias Bruegel, Carmen Rohde, Carmen Rohde (144200), Thiery Joachim, Mütze Ulrike, Claudia Matthies   +39 more
core   +2 more sources

Mother's experiences breastfeeding infants with phenylketonuria

, 2023
Breastfeeding infants with phenylketonuria (PKU) requires complex management combining limited breastfeeding with phenylalanine-free formula to maintain therapeutic levels.
Banta-Wright, Sandra
core   +1 more source

Parenting Styles and Coping Strategies in PKU Early Detected Children

Journal of Inborn Errors of Metabolism and Screening, 2021
Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity.
María L. Pardo Campos, Rosa Enacan, Maria G. Valle, Ana Chiesa   +3 more
doaj   +1 more source

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria

Molecular Genetics and Metabolism Reports, 2022
Classical phenylketonuria (PKU) presents a unique challenge for women of child-bearing age. In the context of pregnancy, poorly controlled hyperphenylalaninemia can result in a devastating constellation of outcomes for the baby referred to as the ...
Vikram K. Raghu, Steven F. Dobrowolski, Rakesh Sindhi, Kevin A. Strauss, George V. Mazariegos, Jerry Vockley, Kyle Soltys   +6 more
doaj   +1 more source

Phenylketonuria felnőttkorban | Adult phenylketonuria [PDF]

, 2017
Absztrakt: A phenylketonuria 1975 óta az újszülöttkori tömegszűrés része. Mára már hazánkban is felnőtt egy olyan generáció, amely születésétől kezdve speciális diétát tart és orvosi tápszert ...
Reismann, Péter, Barta, András Gellért, Barta András Gellért, András Gellért Barta, Sumánszki, Csaba, Péter Reismann, Csaba Sumánszki   +6 more
core   +1 more source

Supplementary data for: Phenylketonuria in a microbial world, chapter 3

, 2023
This folder contains the supplementary data visualizations of Phenylketonuria in a microbial world, chapter 3: Gut-microbiome composition in response to phenylketonuria depends on dietary phenylalanine in BTBR Pahenu2 ...
van der Goot, Els, Falcao Salles lab, Van der Zee lab, van der Goot, Els; id_orcid, Van Der Zee, Eddy A.   +4 more
core   +3 more sources

Importância do diagnóstico e tratamento da fenilcetonúria Diagnoses and treatment of phenylketonuria

Revista de Saúde Pública, 2000
A fenilcetonúria (PKU) é o mais comum dos erros congênitos do metabolismo de aminoácidos. Resulta da deficiência da fenilalanina hidroxilase, enzima que catalisa a conversão de fenilalanina em tirosina.
Nádia VM de Mira, Ursula M Lanfer Marquez   +1 more
doaj   +1 more source

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

JIMD Reports, 2023
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH). If untreated by dietary restriction of phenylalanine intake, impaired postnatal cognitive development results from ...
Malak Ali Alghamdi, Anne O'Donnell‐Luria, Naif A. Almontashiri, Wajeih Y. AlAali, Hebatallah H. Ali, Harvey L. Levy   +5 more
doaj   +1 more source