Results 91 to 100 of about 24,432 (224)

Long-Term Treatment and Diagnosis of Tetrahydrobiopterin-Responsive Hyperphenylalaninemia with a Mutant Phenylalanine Hydroxylase Gene [PDF]

, 2003
Haruo Shintaku, Shigeo Kure, Toshihiro Ohura, Yoshiyuki Okano, Misao Ohwada, Naruji Sugiyama, Nobuo Sakura, Ichiro Yoshida, Makoto Yoshino, Yoichi Matsubara, Ken Suzuki, Kikumaro Aoki, Teruo Kitagawa   +12 more
openalex   +1 more source

Differential Regulation of Hepatic Cholesterol Metabolism by Water Extract or Residue of Large‐Leaf Yellow Tea in High‐Fat Diet‐Fed Mice

Food Frontiers, Volume 7, Issue 1, January 2026.
This study investigates the lipid metabolism regulatory effects of large‐leaf yellow tea (YT), its aqueous extract (YAE), and its tea residue (YSR) in a high‐fat diet‐induced mouse model. we evaluated their effects on serum lipid metabolism indices and explored potential mechanisms of intervention through transcriptome analysis.
Yuzhu Shen, Denghuan Luo, Fengjuan Lu, Rongrong Dong, Xiaochun Wan, Yijun Wang, Hongyan Wang, Ying Zhang, Jun Chu, Jinbao Huang, Na Xu   +10 more
wiley   +1 more source

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal. [PDF]

, 1998
Isabel Rivera, Paula Leandro, Uta Lichter‐Konecki, Isabel Tavares de Almeida, Maria Celeste Lechner   +4 more
openalex   +1 more source

Fermented Rice Bran: A Promising Therapeutic Agent Against High‐Fat Diet‐Induced Metabolic Disorders

Food Science &Nutrition, Volume 14, Issue 1, January 2026.
Fermented rice bran (FRB) has nutritional quality and antioxidant properties higher than nonfermented rice bran (NFRB). Supplementation of FRB for 8 weeks decreased body weight gain by 3.5%, blood sugar levels by 2.03 mmol/L, and liver fat, as well as improved cognitive function and lipid profile, which was associated with downregulation of hepatic ...
Afroza Sultana, Md. Ruhul Amin, Md. Omar Faruque, Muhammad Ali Siddiquee, Md. Zakir Hossain Howlader, Md. Alauddin   +5 more
wiley   +1 more source

Screening and mutation analysis of phenylalanine hydroxylase deficiency in newborns from Jiangxi province. [PDF]

Front Genet, 2023
Zeng B, Lu Q, Chen S, Guan H, Xu X, Zou Y, Wang F, Huang S, Liu Y, Yang B.   +9 more
europepmc   +1 more source

Molecular dynamics simulation data of regulatory ACT domain dimer mutation (K42I) of human phenylalanine hydroxylase (PAH)

, 2020
Ge Yunhui, Vincent A. Voelz
openalex   +1 more source

No QTcF Prolongation with Sepiapterin: Results From a Thorough QT Study in Healthy Subjects at Therapeutic and Supratherapeutic Doses

The Journal of Clinical Pharmacology, Volume 66, Issue 1, January 2026.
Abstract Sepiapterin and its major metabolite 6R‐L‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4) bind to distinct variants of phenylalanine hydroxylase (PAH), which converts excess phenylalanine to tyrosine, thereby stabilizing, enhancing, and prolonging PAH activity.
Lan Gao, Hongqi Xue, Borje Darpo, Kimberly Ingalls, Diksha Kaushik, Neil Smith, Ronald Kong, Lee Golden   +7 more
wiley   +1 more source

Hepatocyte Transplantation Using the Domino Concept in a Child with Tetrabiopterin Nonresponsive Phenylketonuria

Cell Transplantation, 2012
Phenylketonuria is a metabolic disease caused by phenylalanine hydroxylase deficiency. Treatment is based on a strict natural protein-restricted diet that is associated with the risk of malnutrition and severe psychosocial burden.
X. Stéphenne, F. G. Debray, F. Smets, N. Jazouli, G. Sana, T. Tondreau, R. Menten, P. Goffette, F. Boemer, R. Schoos, S. W. Gersting, M. Najimi, A. C. Muntau, P. Goyens, E. M. Sokal M.D., Ph.D.   +14 more
doaj   +1 more source

In Silico Structural Protein Evaluation of the Phenylalanine Hydroxylase p.(Tyr77His) Variant Associated with Benign Hyperphenylalaninemia as Identified through Mexican Newborn Screening. [PDF]

Children (Basel), 2023
Vela-Amieva M, Alcántara-Ortigoza MA, González-Del Angel A, Ibarra-González I, Fernández-Hernández L, Guillén-López S, López-Mejía L, Fernández-Lainez C.   +7 more
europepmc   +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