Results 41 to 50 of about 7,599 (237)

Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria [PDF]

, 2010
Phenylketonuria (PKU) is caused by hepatic phenylalanine hydroxylase (PAH) deficiency and is associated with systemic accumulation of phenylalanine (Phe).
Alexandre Rebuffat, Beat Thöny, Blau N., Cary O. Harding, Donlon J., Guttler F., Harding C.O., Laipis P.J., Xiao W., Ye G.J., Zhaobing Ding   +10 more
core   +1 more source

A Report on the Incidence of phenylketonuria [PDF]

Acta Medica Iranica, 1982
To f i nd the. inc idence of Phenylketonuria(PKU) i n Teheran a study was conduc ted i n di ffe rent hospitals of Te heran f or a period of Six Years (1974-1980) by screening 8633 neona t e s wit h Guthrie-test . (4) .
M. Kabiri
doaj   +2 more sources

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]

, 2017
: Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller, Artuch, Brismar, Calabresi, Carre, Duarte, El-Bassyouni, Fenton, Hayashi, Krahenbuhl, Lindblad, Manoli, Manoli, Martin, McMurry, Moser, Reza Rezvani, Royes, Schrakamp, Scriver, Taneka, Trinh, Van Bakel, Velema, Wilke, Williams   +25 more
core   +1 more source

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

BMC Medical Genetics, 2017
Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4 ...
Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk   +5 more
doaj   +1 more source

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

Endocrinology, Diabetes & Metabolism, 2023
Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali   +12 more
doaj   +1 more source

BH4-deficient hyperphenylalaninemia in Russia.

PLoS ONE, 2021
A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications.
Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis, Victoria S Kakaulina, Irina P Alferova, Lidya V Lyazina, Lilya P Andreeva, Ilya Kanivets, Ekaterina Y Zakharova, Sergey I Kutsev, Aleksander V Polyakov   +12 more
doaj   +1 more source

Serum prolactin as a biomarker for the study of intracerebral dopamine effect in adult patients with phenylketonuria: a cross-sectional monocentric study [PDF]

, 2016
BACKGROUND: It has been previously postulated that high phenylalanine (Phe) might disturb intracerebral dopamine production, which is the main regulator of prolactin secretion in the pituitary gland.
AB Burlina, C Landvogt, CM McKean, D Vliet van, D Vliet van, F Güttler, FJ Spronsen van, HC Curtius, HE Carlson, HE Carlson, J Denecke, J Weglage, KD Wang, KH Schulpis, M Spada, M Velema, MJ Groot de, N Ben-Jonathan, N Blau, W Krause   +19 more
core   +2 more sources

Prenatal Diagnosis of Classical Phenylketonuria with Polymerase Chain Reaction, Automatic Sequencing, and Linkage Analysis with Short Tandem Repeats

Taiwanese Journal of Obstetrics & Gynecology, 2005
Objective: To share our experience of prenatal classical phenylketonuria (PKU) diagnosis using the polymerase chain reaction (PCR), automatic sequencing, and linkage analysis with short tandem repeats (STRs).
Wei-Min Hu, Kwang-Jen Hsaio, Cheng-Yi Cheng, Tsung-Sheng Su, Peng-Hui Wang, Man-Li Yang   +5 more
doaj   +1 more source

Tetrahydrobiopterin Deficiency: From Phenotype to Genotype [PDF]

, 2017
As a result of the selective screening worldwide during the last 18 years, approximately 250 patients with tetrahydrobiopterin deficiency were discovered.
Blau, Nenad, Dhondt, Jean-Louis, Heizmann, Claus W., Thöny, Beat   +3 more
core  

A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

Metabolites, 2020
Phenylketonuria (PKU) is a rare autosomal recessive condition affecting about 1 in 10,000 people in the Europe, with a higher rate in some countries, like Ireland and Italy.
Damiana Pieragostino, Ilaria Cicalini, Silvia Di Michele, Paola Fusilli, Giovanna Cotugno, Rossella Ferrante, Ines Bucci, Carlo Dionisi-Vici, Liborio Stuppia, Vincenzo De Laurenzi, Claudia Rossi   +10 more
doaj   +1 more source