Results 61 to 70 of about 69,044 (178)

Assessing the causal relationship between the plasma proteome and epilepsy: A Mendelian randomization study

Epilepsia Open, Volume 10, Issue 6, Page 1966-1977, December 2025.
Abstract Objective Understanding the role of plasma proteins in the pathophysiology of epilepsy is crucial for uncovering novel biological mechanisms and therapeutic targets. Mendelian randomization (MR) provides a valuable tool for dissecting potentially causal associations between circulating proteins and disease risk.
Jingfeng Fu, Wei Wu, Shangren Shen
wiley   +1 more source

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids

Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.
Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
wiley   +1 more source

Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs

The Turkish Journal of Pediatrics, 2012
In many countries, neonatal screening programs have been unable to expand and have been limited to a few diseases. We highlight herein the opportunity available for the early detection of some inborn errors of metabolism (IEMs) in those countries ...
Ozlem Unal, Burcu Oztürk-Hişmi, Turgay Coşkun, Ayşegül Tokatlı, Ali Dursun, Hatice Serap Sivri   +5 more
doaj   +1 more source

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

The Turkish Journal of Pediatrics
Objective. Phenylketonuria (PKU) is a prevalent inherited metabolic disorder, resulting from biallelic pathogenic variants in the PAH gene. This study aimed to assess the clinical characteristics of 1103 infants referred to a single center due to ...
Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, Mustafa Güvercin, Yılmaz Yıldız, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı   +8 more
doaj   +1 more source

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

JCI Insight, 2020
Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities.
Erik A. Koppes, Bethany K. Redel, Marie A. Johnson, Kristen J. Skvorak, Lina Ghaloul-Gonzalez, Megan E. Yates, Dale W. Lewis, Susanne M. Gollin, Yijen L. Wu, Shawn E. Christ, Martine Yerle, Angela Leshinski, Lee D. Spate, Joshua A. Benne, Stephanie L. Murphy, Melissa S. Samuel, Eric M. Walters, Sarah A. Hansen, Kevin D. Wells, Uta Lichter-Konecki, Robert A. Wagner, Joseph T. Newsome, Steven F. Dobrowolski, Jerry Vockley, Randall S. Prather, Robert D. Nicholls   +25 more
doaj   +1 more source

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified

International Journal of Neonatal Screening
DNAJC12 deficiency is a recently described inherited metabolic disorder resulting in hyperphenylalaninemia and neurotransmitter deficiency. The effect of treatment on the prevention of neurological manifestations in this newly reported and heterogenous ...
Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani, Cheuk Wing Fung   +11 more
doaj   +1 more source

Socialization of a patient with late-diagnosed classical phenylketonuria. Case report

Consilium Medicum
Classical phenylketonuria (PKU) is a group of autosomal recessive disorders characterized by hyperphenylalaninemia. Phenylketonuria is hyperphenylalaninemia caused by a deficiency of phenylalanine hydroxylase, leading to the accumulation of phenylalanine
Elena V. Proskurina, Olga P. Sidorova
doaj   +1 more source

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

The Turkish journal of pediatrics, 1996
Tetrahydrobiopterin deficiency, a variant of hyperphenylalaninemia, may be caused by deficiency of one of the following enzymes: guanosine triphosphate cyclohydrolase 1,6-pyruvoyltetrahydropterin synthase, dihydropteridin reductase and pterin-4a-carbinolamine dehydratase.
Blau N, Thony B, Spada M, Ponzone A
openaire   +3 more sources

Phenylketonuria and glycogen storage disease type III in sibs of one family

The Turkish Journal of Pediatrics, 2002
Hyperphenylalaninemia result from a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme phenylalanine hydroxylase (98% of subjects) or in the metabolism of the cofactor tetrahydrobiopterin.
Tuncay Yilmazer, Albert H Van Gennip, Nico G G M Abeling, Imran Ozalp, Turgay Coşkun, Henk D Bakker   +5 more
doaj  

Hyperphenylalaninemia and serotonin deficiency in Dnajc12-deficient mice

Communications Biology
Serotonin exerts numerous neurological and physiological actions in the brain and in the periphery. It is generated by two different tryptophan hydroxylase enzymes, TPH1 and TPH2, in the periphery and in the brain, respectively, which are members of the ...
Yunqing Cao, Oliver Popp, Niccolo Milani, Fatimunnisa Qadri, Ralf Kühn, Philipp Mertins, Michael Bader, Natalia Alenina   +7 more
doaj   +1 more source