Results 51 to 60 of about 1,727,355 (121)

Diagnosing late-onset PKU in the shadow of refractory seizures. [PDF]

Radiol Case Rep
Phenylketonuria (PKU), a rare autosomal recessive metabolic disorder, often presents with severe neurological complications if untreated, but late diagnosis can mimic other conditions such as Febrile Infection-Related Epilepsy Syndrome (FIRES).
Awashra A, Neiroukh H, Milhem A, Hamdan D, Sarama A, Dweikat T, Hmeedan A, Khader S.   +7 more
europepmc   +2 more sources

Coevolution of the Human Brain and Microbiome: Roles of Accelerated Regions and Maternal Microbiota in Neurodevelopment

Advanced Gut &Microbiome Research, Volume 2026, Issue 1, 2026.
The coevolution of the human brain and microbiome has emerged as a pivotal area of research, highlighting the interactions that have shaped human development. Human accelerated regions (HARs), which are genomic sequences that evolved rapidly in humans, play an important role in brain development, influencing cognitive functions and susceptibility to ...
Siddharth Singh, Vaishali Saini, Meenakshi Kandpal, Trushnal S. Waghmare, Bhupesh K. Prusty, Hem Chandra Jha, Jiong Yu   +6 more
wiley   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000–50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and
Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li, Hui Zhang, Richa Sharma   +11 more
wiley   +1 more source

Neonatal PKU screening in Turkey: 7 years experience in a developing country

, 1995
Introduction: This report describes the system of neonatal screening for phenylketonuria (PKU) that has been developed in Turkey and the results of screening.
Gülşen Erdem, YURDAKOK, MURAT, Gülden Köksal, KOKSAL, G, Turgay Coşkun, Imran Özalp, OZGUC, M, Suzan Tokol, TOKOL, S, TOKATLI, AYŞEGÜL, OZALP, I, Ayşegül Tokatli, Meral Özgüç, Murat Yurdakök, COSKUN, T, ERDEM, G   +15 more
core   +1 more source

Implementation of SIJAREMAS to Reduce Maternal Mortality at Pku Muhammadiyah, Grobogan, Central Java [PDF]

, 2018
Background: Maternal and Neonatal Referal Network Information System (Sistem Informasi Jejaring Rujukan Maternal dan Neonatal, SIJARIEMAS) is a program that seeks to strengthen the referral system of maternal and neonatal health in Indonesia by ...
Diah Rahayu Wulandari, Wulandari, D. R. (Diah), Wahyudi, F. (Firdaus), Nugroho, T. W. (Teddy), Arwinda Nugraheni, Nugraheni, A. (Arwinda), Teddy Wahyu Nugroho, Dea Amarilisa Adespin, Adespin, D. A. (Dea), Firdaus Wahyudi   +9 more
core   +1 more source

Brain-Damage Syndrome in Phenylketonuria

, 1971
Fine motor, distractibility, and activity level measurements were conducted for 16 treated PKU children and their 13 normal siblings. Analyses of covariance found the PKU Ss' performance on these tasks was not different than would be expected on the ...
Julian Berman, Jerome L. Schulman, Robin C. Ford, Joseph C. Kaspar, David A. Child   +4 more
core   +1 more source

Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

, 2013
International audienceIn our phenylketonuria (PKU) cohort of 120 patients, we uncovered a couple of cases of undiagnosed mild phenylketonuria (mPKU)/hyperphenylalaninemia (mHPA) in maternal parents of the PKU cohort.
Feillet, F., Leheup, B., Battaglia-Hsu, F., Jonveaux, P., Jeannesson, E., Wiedemann, A.   +5 more
core   +1 more source

Nutritional approach to PKU diet

, 1995
Phenylketonuria (PKU) represents an ever changing challenge for the nutritionist. The avoidance of unpermitted foods in infants leads to the exclusion of nutrients naturally occurring only in whole animal foods and recently identified as essential or ...
Rottoli A, Luotti D, Biasucci G, Riva E, Giovannini M, Agostori C   +5 more
core  

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride

, 2017
Strict control of hyperphenylalaninemia is necessary in pregnant women with phenylketonuria (PKU) in order to prevent phenylalanine embryopathy in the fetus, characterized by intrauterine growth restriction, dysmorphic facies, congenital heart disease ...
DURSUN, ALİ, YILDIZ, YILMAZ, TOKATLI, AYŞEGÜL, Sivri, Serap, COŞKUN, TURGAY   +4 more
core   +1 more source

Developmental neurotoxicity: do similar phenotypes indicate a common mode of action? A comparison of fetal alcohol syndrome, toluene embryopathy and maternal phenylketonuria

, 2002
Developmental neurotoxicity can be ascribed to in utero exposure to exogenous substances or to exposure of the fetus to endogenous compounds that accumulate because of genetic mutations. One of the best recognized human neuroteratogens is ethanol.
Costa, L. G, Oberdoerster, J., Guizzetti, M, Burry, M   +3 more
core