Results 41 to 50 of about 74,556 (215)

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

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

Beyond protective factors and normal IQ in preterm children: More executive disorders than expected

Journal of Neuropsychology, EarlyView.
Abstract Executive functions (EF) are vulnerable in preterm children. Owing to methodological issues, inconsistent findings have left some questions unresolved. This study implemented a theory‐guided, integrative EF assessment in preterm children. We also examined the impact of perinatal and sociodemographic features on EF disorder.
Olivier Cadeau, Jean‐Baptiste Muller, Amanda Guerra, Cécile Boscher, Anne Frondas, Jean‐Christophe Rozé, Cyril Flamant, Clair‐Yves Boquien, Laure Simon, Arnaud Roy   +9 more
wiley   +1 more source

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

Behavioral Phenotyping of the Pahenu2 Mouse Model for Phenylketonuria—A Scoping Review and Future Perspectives

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Phenylketonuria (PKU) is a rare metabolic disorder resulting from a mutation in the gene encoding the enzyme phenylalanine hydroxylase (PAH), resulting in very high phenylalanine (Phe) levels in blood and brain. A PKU mutant mouse model was developed via N‐ethyl‐N‐nitrosourea (ENU) mutagenesis, mimicking the high brain Phe content seen in ...
Junfei Cao, Lennart Kruizinga, Iris B. Hovens, Els van der Goot, Robbert Havekes, Eddy A. van der Zee   +5 more
wiley   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1814-1820, August 2026.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Adenovirus Vector‐Mediated In Vivo Knock‐in Treatment of Neonatal Phenylketonuria Mice Using Terminally Cleaved Donor DNA

The Journal of Gene Medicine, Volume 28, Issue 8, August 2026.
We successfully developed a highly efficient knock‐in adenovirus vector, AxPah‐6g‐cut. This vector cleaves not only the genomic target site but also the terminus of the donor DNA in the vector. When this vector was intravenously administered twice to phenylketonuria (Pahenu2) mice together with a Cas9‐expressing vector, AxCBCas9, it resulted in the ...
Megumi Yamaji, Hirotaka Tabata, Mariko Nakamura, Ryoko Fuse, Tadashi Okada, Shun‐Ichi Ohba, Tomokazu Ohishi, Manabu Kawada, Izumu Saito, Shigeto Sato, Tomoko Nakanishi   +10 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

, 2018
Objectives: To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais.
Cezar Antonio Abreu de Souza, Valéria de Melo Rodrigues, Michelle Rosa Andrade Alves, Viviane de Cássia Kanufre, Rocksane de Carvalho Norton, Rosangelis del Lama Soares, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar   +7 more
core   +2 more sources

Safety assessment of sapropterin dihydrochloride: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS)

Frontiers in Pharmacology
ObjectiveSapropterin dihydrochloride is the first drug for the therapy of phenylketonuria, which is a rare disease that occurs one of 10,000–15,000 newborns.
Jiahong Zhong, Xihui Yu, Zhuomiao Lin
doaj   +1 more source