Results 91 to 100 of about 68,473 (259)

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western Romania [PDF]

, 2023
Alin Iuhas, Claudia Jurcă, Kinga Kozma, Anca‐Lelia Riza, Ioana Streață, Codruța Diana Petcheși, Andra Dan, Cristian Sava, Andreea Balmoș, Cristian Marinău, Larisa Niulaș, Mihai Ioana, Marius Bembea   +12 more
openalex   +1 more source

PAH and QDPR deficiency associated mutations in the Novosibirsk region of the Russian Federation: Correlation of mutation type with disease manifestation and severity [PDF]

Journal of Medical Biochemistry, 2014
Background: Efficient treatment of inherited hyperphenylalaninemia requires exact identification of mutations defining the trait. Such knowledge is important both for effective individual therapy and understanding of the genetic history and evolution of ...
Baturina Olga A., Tupikin Alexey E., Lukjanova Tatyana V., Sosnitskaya Svetlana V., Morozov Igor V.   +4 more
doaj  

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

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia [PDF]

, 2017
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of l-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely ...
Abada, Myriem, Bouteiller, Delphine, Brice, Alexis, Camuzat, Agnès, Castelnau, Pierre, Cazeneuve, Cécile, Chabrol, Brigitte, Clot, Fabienne, Damier, Philippe, Doummar, Diane, Durr, Alexandra, Fedirko, Estelle, Gil, Roger, Grabli, David, Hutchinson, Michael, Landrieu, Pierre, LeGuern, Eric, Nguyen, Karine, Picard, Fabienne, Ponsot, Gérard, Roze, Emmanuel, Sân, Chankannira, Thobois, Stéphane, Toutain, Annick, Vidailhet, Marie, Ward, Alana J.   +25 more
core  

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Molecular basis for nonphenylketonuria hyperphenylalaninemia

Genomics, 1992
Nonphenylketonuria hyperphenylalaninemia (non-PKU HPA) is defined as phenylalanine hydroxylase (PAH) deficiency with blood phenylalanine levels below 600 mumol/liter (i.e., within the therapeutic range) on a normal dietary intake. Haplotype analysis at the PAH locus was performed in 17 Danish families with non-PKU HPA, revealing compound heterozygosity
E, Economou-Petersen, K F, Henriksen, P, Guldberg, F, Güttler   +3 more
openaire   +2 more sources

Specific characteristics of dynamic monitoring of patients diagnosed with classical phenylketonuria during pregnancy

Лечащий Врач
Background. The main therapy for phenylketonuria is a specialised diet with restriction of natural protein, respectively phenylalanine with the prescription of specialised therapeutic foods based on amino acids without phenylalanine.
E. A. Shestopalova
doaj   +1 more source

119. Long-Term Correction of Hyperphenylalaninemia in a Mouse Model for PKU by Intramuscular Delivery of AAV Expressing PAH with Serotypes 1, 2 or 8 [PDF]

, 2008

openalex   +1 more source

HYPERPHENYLALANINEMIA DUE TO PHENYLALANINE HYDROXYLASE COFACTOR DEFICIENCY [PDF]

, 1977
Sheldon Milstien, Sheldon Orloff, Stephen P. Spielberg, Stanley Berlow, Joseph D. Schulman, Seymour Kaufman   +5 more
openalex   +1 more source

Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016 [PDF]

, 2018
Phenylketonuria is one of the most important congenital disorders and an autosomal recessive metabolic disease that can cause irreversible brain damages, mental retardation, and cognitive disorders if left untreated.
Ganji, Foruzan, Lotfizadeh, Masoud, Naseri, Hooshang, Rostampour, Noushin, Sedighi, Mozhde   +4 more
core   +1 more source