Results 21 to 30 of about 73,449 (206)

Sapropterin dihydrochloride therapy in dihydropteridine reductase deficiency: Insight from the first case with molecular diagnosis in Brazil

JIMD Reports, 2021
Tetrahydrobiopterin (BH4) is a cofactor that participates in the biogenesis reactions of a variety of biomolecules, including l‐tyrosine, l‐3,4‐dihydroxyphenylalanine, 5‐hydroxytryptophan, nitric oxide, and glycerol.
Charles Marques Lourenço, Janaina Dovidio, Isabela F. Lopes, Laís C. Silva, Marcela Almeida, Laura Vagnini, Jacqueline Fonseca, Zumira A. Carneiro, Beat Thöny   +8 more
doaj   +1 more source

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

JIMD Reports, 2021
Background Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow‐up of phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability of plasma and dried blood spot (DBS) Phe results ...
Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen   +16 more
doaj   +1 more source

Recommendations on phenylketonuria in Turkey

The Turkish Journal of Pediatrics, 2022
Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri   +4 more
doaj   +1 more source

Incidence of neonatal hyperphenylalaninemia in Fars province, Southern Iran [PDF]

, 2010
Objective: Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH4), deficiency causes accumulation of phenylalanine in body fluids and central nervous system.
Amirhakimi, Gholamhossein, Karamifar, Hamdollah, Ordoei, Mahtab, Karamizadeh, Zohreh   +3 more
core   +2 more sources

THE IMPORTANCE OF DIET THERAPY IN THE TREATMENT OF PHENYLKETONURIA: A CASE REPORT

Elektronički Zbornik Radova Veleučilišta u Šibeniku, 2022
Phenylketonuria is the most common inborn error of amino acid metabolism. It is caused by the impossibility of converting the essential amino acid phenylalanine into tyrosine, most often due to insufficient production or a complete lack of the enzyme ...
Nikolina Gaćina, Jerko Vučak
doaj   +1 more source

DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant

, 2021
In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants, the deficiency of the co-chaperone protein DNAJC12 was identified in 2017 as a novel cause of inherited hyperphenylalaninemia,
Çıkı, Kısmet, Özgül, RIZA KÖKSAL, Dursun, Ali, Pektaş, Emine, Yücel Yılmaz, DİDEM, Tokatlı, AYŞEGÜL, Sivri, H Serap, Yıldız, YILMAZ   +7 more
core   +1 more source

A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver

Molecular Therapy: Nucleic Acids, 2014
We have previously demonstrated the efficacy of antisense therapy for splicing defects in cellular models of metabolic diseases, suppressing the use of cryptic splice sites or pseudoexon insertions.
Lorena Gallego-Villar, Hiu Man Viecelli, Belén Pérez, Cary O Harding, Magdalena Ugarte, Beat Thöny, Lourdes R Desviat   +6 more
doaj   +1 more source

Management of Phenylketonuria and Hyperphenylalaninemia [PDF]

The Journal of Nutrition, 2007
Hyperphenylalaninemia (HPA) is the most frequently inherited disorder of amino acid metabolism (prevalence 1:10,000). In France, a nationwide neonatal screening was organized in 1978 to control its efficacy and patient follow-up. Phenylketonuria (PKU) was diagnosed in 81.6% of screened patients, the remaining affected with either non-PKU HPA (17.2%) or
Hélène Ogier, de Baulny, Véronique, Abadie, François, Feillet, Loïc, de Parscau   +3 more
openaire   +2 more sources

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia [PDF]

Pediatric Research, 1991
Some cases of primary hyperphenylalaninemia are not caused by the lack of phenylalanine hydroxylase, but by the lack of its cofactor tetrahydrobiopterin. These patients are not clinically responsive to a phenylalanine-restricted diet, but need specific substitution therapy. Thus, it became necessary to examine all newborns screened as positive with the
PONZONE, Alberto, GUARDAMAGNA, Ornella, Ferraris S, FERRERO, Giovanni Battista, DIANZANI, Irma, Cotton R.G.   +5 more
openaire   +4 more sources

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   +1 more source