Results 21 to 30 of about 499,338 (183)

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

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

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

Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

BMC Medical Genomics, 2021
Background Phenylketonuria (PKU) is a metabolic disease that can cause severe and irreversible brain damage without treatment. Methods Here we developed a non-invasive prenatal diagnosis (NIPD) technique based on haplotypes via paired-end molecular tags ...
Dai Peng, Zhao Ganye, Sun Gege, Xia Yanjie, Liu Ning, Kong Xiangdong   +5 more
doaj   +1 more source

Congenital heart disease and its journey from dental plaque to arterial plaque

Journal of International Clinical Dental Research Organization, 2016
Congenital heart disease is mostly found in children, approximately around 7–10% from overall heart diseases. The etiology is multifactorial but reported associations include untreated maternal diabetes, phenylketonuria, intake of retinoic acid last but ...
Vinathi Reddy Kankara, Nagireddy Ravindra Reddy   +1 more
doaj   +1 more source

#174 : Preconception Risk Factors and Interventions to Prevent Adverse Maternal, Perinatal, and Child Health Outcomes

Fertility & Reproduction, 2023
Background and Aims: Preconception period allows to explore and intervene how women’s health conditions and certain risk factors could affect the mother and newborn’s health, once she becomes pregnant.
Zahra Ali Padhani, Jodie Avery, Gizachew Tessema, Negin Mirzaei Damabi, Zohra Lassi   +4 more
doaj   +1 more source

Attitudes of Chinese maternal and child health professionals toward termination of pregnancy for fetal anomaly: a cross-sectional survey

Frontiers in Public Health, 2023
ObjectivesThis study explores the attitudes of Chinese maternal and child health professionals toward the termination of pregnancy for fetal anomaly (TOPFA) based on four case scenarios and further identifies the factors that influence their attitudes ...
Ying Wu, Yanlin Liu, Yanlin Liu, Xiaomin Wang, Xiaomin Wang, Yuqiong Zhong, Xin Zhang, Xin Zhang, Dan Luo, Xing Liu, Xing Liu   +10 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