Results 21 to 30 of about 7,599 (237)

Protective Effect of Recombinant Adeno-Associated Virus 2/8-Mediated Gene Therapy from the Maternal Hyperphenylalaninemia in Offsprings of a Mouse Model of Phenylketonuria [PDF]

, 2008
Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of phenylalanine leads to severe mental and psychomotor retardation, and the fetus of an ...
Arruda, Berraondo, Chen, Cho, Cristiano, Davidoff, Ding, Erlandsen, Eun-Sook Park, Fang, Gao, Gogu, Guttler, Hae-Young Park, Harding, Hoang, Hyun-Jeong Oh, Jacob, Jin-Ok Choi, Joo-Won Park, Jung, Koch, Koch, Kyung-In Seo, Lidsky, McDonald, Menkes, Mochizuki, Nagasaki, Nakai, Oh, Pietz, Saad, Schuettrumpf, Sung-Chul Jung, Zenclussen   +35 more
core   +3 more sources

Correction: Donnelly et al. A Case of <i>DNAJC12</i>-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 7. [PDF]

Int J Neonatal Screen
Donnelly C, Estrella L, Ginevic I, Ganesh J.   +3 more
europepmc   +2 more sources

Hyperphenylalaninemia and serotonin deficiency in Dnajc12-deficient mice [PDF]

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   +2 more sources

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case. [PDF]

Case Reports Immunol
Musabak U, Erdogan T, Akcay MS, Ceylaner S.   +3 more
europepmc   +2 more sources

Predictive value of fluorometric method and tandem mass spectrometry for hyperphenylalaninemia and its subtypes in China: A systematic review and meta‑analysis. [PDF]

Exp Ther Med
Shang Z, Xie P, Pan K, Liu J, Xu W, Hu Y, Tang L, Leng Q, Liu S, He C.   +9 more
europepmc   +3 more sources

Mutationen im PTS-Gen und mögliche Auswirkungen auf Funktion und Struktur der 6-Pyruvoyl-Tetrahydropterin-Synthase [PDF]

, 2002
Background: Research on Juvenile Idiopathic Arthritis (JIA) should support patients, caregivers/parents (carers) and clinicians to make important decisions in the consulting room and eventually to improve the lives of patients with JIA.
Preuße, Friedrich-Alexander, Prof. Dr. O. Bandmann   +1 more
core   +12 more sources

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? [PDF]

, 2014
Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.
Donaldson, Malcolm, Giacomozzi, Claudio, Lucaccioni, Laura, Schwahn, Bernd C   +3 more
core   +3 more sources

The Utility of Genomic Testing for Hyperphenylalaninemia

Journal of Clinical Medicine, 2022
Hyperphenylalaninemia (HPA), the most common amino acid metabolism disorder, is caused by defects in enzymes involved in phenylalanine metabolism, with the consequent accumulation of phenylalanine and its secondary metabolites in body fluids and tissues.
Elisabetta Anna Tendi, Maria Guarnaccia, Giovanna Morello, Sebastiano Cavallaro   +3 more
openaire   +3 more sources

Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]

, 2017
Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego, Colamartino, Marco, DE ANGELIS, Federica, DE JACO, Antonella, Favaloro, FLORES LIETTA, Fiori, Elena, Mango, Dalila, Nistico', ROBERT GIOVANNI, Pascucci, Tiziana   +8 more
core   +2 more sources

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