Results 41 to 50 of about 73,449 (206)

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

Table2_Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.DOCX

, 2022
Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Zailan Yang (13036608), Yun Chen (279569), Kaiyu Liu (309766), Hao Zhou (136535), Yaozhou Wang (11423599)   +4 more
core   +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

Video1_Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.MP4

, 2022
Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Zailan Yang (13036608), Yun Chen (279569), Kaiyu Liu (309766), Hao Zhou (136535), Yaozhou Wang (11423599)   +4 more
core   +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

Video2_Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review.MP4

, 2022
Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Zailan Yang (13036608), Yun Chen (279569), Kaiyu Liu (309766), Hao Zhou (136535), Yaozhou Wang (11423599)   +4 more
core   +1 more source

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

Cognitive and behavioral impairment in mild hyperphenylalaninemia

The Turkish Journal of Pediatrics, 2018
As elevated phenylalanine (Phe) is detrimental to brain functions, determining a safe upper limit of blood Phe is important for initiation of treatment plans and setting Phe targets in hyperphenlalaninemic patients.
S Gülin Evinç, Ferhunde Öktem, Turgay Coskun, Ayşegül Tokatlı, Ali Dursun, Berrak Bilginer-Gürbüz, Yamaç Karaboncuk, Yılmaz Yıldız, Dilşad Foto-Özdemir, Emine Pektaş, H Serap Sivri   +10 more
doaj   +1 more source