Results 111 to 120 of about 31,184 (250)

Unraveling the Interplay Between Metabolism and Neurodevelopment in Health and Disease

CNS Neuroscience &Therapeutics, Volume 31, Issue 5, May 2025.
Neurodevelopment is orchestrated by precise metabolic regulation. Key metabolic processes—glucose, lipid, and amino acid metabolism—drive cell proliferation, differentiation, synaptogenesis, and neurotransmitter synthesis. These are tightly integrated with signaling pathways like mTOR, AMPK, and insulin/IGF that regulate neuronal growth and synaptic ...
Yanqing He, Kang Xie, Kang Yang, Nianhua Wang, Longbo Zhang   +4 more
wiley   +1 more source

Investigation of Demographic Indicators of Phenylketonuria Patients and Determining the Reasons for Their Referral to Rehabilitation Centers

پزشکی بالینی ابن سینا, 2020
Background and Objective: Phenylketonuria is one of the most common metabolic disorders which causes brain abnormalities in children if they do not receive treatment or their treatment is delayed or ineffective. In this regard, the present study aimed to
Zahra Mortazavi, Seyed Sadegh Salehi Sadati, Malihe Safari, Nasrin Gohari, Saideh Sadat Mortazavi   +4 more
doaj  

Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria

Cell Transplantation, 2012
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden.
X. Stéphenne, F. G. Debray, F. Smets, N. Jazouli, G. Sana, T. Tondreau, R. Menten, P. Goffette, F. Boemer, R. Schoos, S. W. Gersting, M. Najimi, A. C. Muntau, P. Goyens, E. M. Sokal M.D., Ph.D.   +14 more
doaj   +1 more source

Food insecurity in females with phenylketonuria

JIMD Reports, 2020
Summary Phenylketonuria (PKU) is a genetic disorder characterized by insufficient metabolism of phenylalanine. Depending on severity, patients follow a low‐phenylalanine diet and may consume medical food (MF) and low‐protein modified foods; dietary and ...
Kathryn E. Coakley, Suzanne Porter‐Bolton, Mary L. Salvatore, Rosalynn B. Blair, Rani H. Singh   +4 more
doaj   +1 more source

Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism [PDF]

, 2009
The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998.
ANASTÁCIO-PESSAN, Fernanda da Luz, FERREIRA, Amanda Tragueta, GEJÃO, Mariana Germano, LAMÔNICA, Dionísia Aparecida Cusin, SILVA, Greyce Kelly   +4 more
core   +3 more sources

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial12

American Journal of Clinical Nutrition, 2016
Background: To prevent cognitive impairment, phenylketonuria requires lifelong management of blood phenylalanine (Phe) concentration with a low-Phe diet.
D. Ney, Bridget M. Stroup, M. Clayton, S. Murali, G. Rice, F. Rohr, H. Levy   +6 more
semanticscholar   +1 more source

Embracing the future: Neonatal screening for epileptic syndromes

Epilepsia, EarlyView.
Rima Nabbout, Mathieu Kuchenbuch
wiley   +1 more source

Evaluation of Personal-Social Developmental Skills Levels in Children with Early Treated Phenylketonuria

Journal of Rehabilitation, 2013
Objective: This Study aimed to investigate the level of personal-social developmental skills in 1-4 years old children with early treated phenylketonuria.
Zahra Ghadbeigi, Firouzeh Sajedi, Akbar Biglariyan, Gita Movallali, Sepideh Nazi   +4 more
doaj  

Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria

PLoS ONE, 2017
Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe).
S. Bell, D. Wendt, Yanhong Zhang, T. W. Taylor, Shinong Long, L. Tsuruda, Bin Zhao, Phillip Laipis, P. Fitzpatrick   +8 more
semanticscholar   +1 more source

Treatment of Phenylketonuria with a Diet Low in Phenylalanine [PDF]

, 1955
L. I. Woolf, Ruth Griffiths, Alan Moncrieff   +2 more
openalex   +1 more source