Results 111 to 120 of about 68,473 (259)

SUPPLEMENTATION OF LONG-CHAIN POLYUNSATURATED FATTY ACIDS (LCPUFA) IN HYPERPHENYLALANINEMIA (HPA) [PDF]

, 1998
Carlo Agostoni, Giacomo Biasucci, Ivana Basile, Niccolò Giovannini, Marcello Giovannini, E. Riva   +5 more
openalex   +1 more source

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  

1225 PKU AND MILD HYPERPHENYLALANINEMIA (MHP) IN SIBLINGS: BIOCHEMICAL CHARACTERIZATION AND MOLECULAR RFLP ANALYSIS OF THE PHENYLALANINE HYDROXYLASE (PAH) GENE [PDF]

, 1985
Fred D. Ledley, Harvey L. Levy, Alan S. Lidsky, Savio L.C. Woo   +3 more
openalex   +1 more source

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response [PDF]

, 2017
The discovery of a pharmacological treatment for phenylketonuria (PKU) raised new questions about function and dysfunction of phenylalanine hydroxylase (PAH), the enzyme deficient in this disease.
Blau, Nenad, Danecka, Marta K., Gersting, Søren W., Kemter, Kristina F., Messing, Dunja D., Muntau, Ania C., Pinkas, Daniel, Staudigl, Michael, Woidy, Mathias   +8 more
core  

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience [PDF]

, 2018
In every newborn with even mild hyperphenylalaninemia (HPA) tetrahydrobiopterin (BH4) deficiencies need to be excluded as soon as possible. Differential diagnosis is most commonly performed by analysis of urinary neopterin and biopterin.
Abu Seda, Bettina, Blau, Nenad, Hoffmann, Georg, Opladen, Thomas, Rassi, Anahita, Thöny, Beat   +5 more
core  

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

Pharmacological interactions of anti-inflammatory-analgesics in odontology [PDF]

, 2009
In this second article we describe the more interesting pharmacological interactions in dental practice based on the prescription of analgesic narcotics, paracetamol and non-selective non-steroid anti-inflammatory drugs (NSAI) (which inhibit ...
Calvo Guirado, José Luis, Cutando Soriano, Antonio, Guardia Muñoz, Javier, Gómez Moreno, Gerardo   +3 more
core  

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants

, 2008
Aurora Daniele, Giuseppe Cardillo, Cinzia Pennino, Maria Teresa Carbone, Domenico Scognamiglio, Luciana Esposito, Antonio Correra, Giuseppe Castaldo, Adriana Zagari, Francesco Salvatore   +9 more
openalex   +2 more sources

Newborn PKU screening in Turkey: at present and organization for future

The Turkish Journal of Pediatrics, 2001
At present, pkenylketonuria screening is a national child health program in Turkey which is carried out collaboratively by the Ministry of Health and three University Children's Hospitals in Ankara, Istanbul and Izmir.
I Ozalp, T Coşkun, A Tokatli, H S Kalkanoğlu, A Dursun, S Tokol, G Köksal, M Ozgüc, R Köse   +8 more
doaj  

Hyperphenylalaninemia, BH4-deficient C [PDF]

, 2020
National Cancer Institute
openalex   +1 more source