Results 41 to 50 of about 902 (137)

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Tyrosine hydroxylase (TH) catalyses the rate‐limiting step in dopamine biosynthesis. Autosomal recessive tyrosine hydroxylase deficiency (THD) leads to clinical phenotypes reflecting the deficiency of dopamine, norepinephrine, or epinephrine in the central nervous system (CNS), presenting along a continuous spectrum from mild to severe forms ...
Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, Roser Pons, Toni S. Pearson, Kathrin Jeltsch, Ivana Badnjarevic, Tessa Wassenberg, Gabriella Horvath, Galina Stevanovic, Manju A. Kurian, Elisenda Cortès‐Saladelafont, Agathe Roubertie, Vincenzo Leuzzi, Mariarita Bertoldi, Mario Mastrangelo, Birgit Assmann, THD Guidelines Working Group, Ines Denzler, Clarisa Maxit, Natalia Alexandra Julia‐Palacios, Shekeeb Mohammad, Helly Goez, Wai‐Ian Yeung, Tomáš Honzík, Ivana Kavecan, Alba Tristán‐Noguero, Alberto Burlina, Daniela Gueraldi, Sushil Bandodkar, Willemsen Michel, Francesco Porta, Sheila Wong, Filippo Manti, Reem Alkhater, Chris Mühlhausen, Alice Kuster, Dimitrios Zafeiriou, Paulo Sgobbi, Wladimir Bocca Vieira de Rezende Pinto, Angeles Garcia‐Cazorla, Thomas Opladen   +41 more
wiley   +1 more source

Dystonia and Biopterin Deficiency

Pediatric Neurology Briefs, 1988
Five patients with childhood dystonia associated with reduced CSF biopterin, responsive to levodopa, and characterized by diurnal and exertional variation are reported from the Developmental and Metabolic Neurology Branch, National Institute of Neurological and Communicative Disorders and Stroke, Bethesda, MD.
openaire   +4 more sources

Endothelial GTPCH (GTP Cyclohydrolase 1) and Tetrahydrobiopterin Regulate Gestational Blood Pressure, Uteroplacental Remodeling, and Fetal Growth. [PDF]

Hypertension, 2021
Chuaiphichai S, Yu GZ, Tan CMJ, Whiteman C, Douglas G, Dickinson Y, Drydale EN, Appari M, Zhang W, Crabtree MJ, McNeill E, Hale AB, Lewandowski AJ, Alp NJ, Vatish M, Leeson P, Channon KM.   +16 more
europepmc   +1 more source

Radioimmunoassay for biopterin.

Proceedings of the Japan Academy, Series B, 1979
NAGATSU, Toshiharu, YAMAGUCHI, Tokio, KATO, Takeshi, SUGIMOTO, Takashi, MATSUURA, Sadao, KOBAYASHI, Ken-ichiro, AKINO, Miki, TSUSHIMA, Shoichiro, NAKAZAWA, Nobuhiko, OGAWA, Hiroshi   +9 more
openaire   +2 more sources

Biopterin [PDF]

, 2018
openaire   +2 more sources

Metabolite diversity of Microcystis strains shows tight correspondence to genotype and may contribute to ecotype specificities. [PDF]

Commun Biol
Huré A, Le Meur M, Duval C, Bouly JP, Mary L, Quiquand M, Dawra M, Gugger M, Halary S, Marie B.   +9 more
europepmc   +1 more source

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness. [PDF]

J Inherit Metab Dis
Himmelreich N, Blau N.
europepmc   +1 more source

Tetrahydrobiopterin in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Friend or Foe? [PDF]

Biomolecules
Rahman AFMT, Benko A, Bulbule S, Gottschalk CG, Arnold LA, Roy A.   +5 more
europepmc   +1 more source

Transcriptional regulation of the GTP cyclohydrolase I gene via the NF-κB pathway by bacterial and viral immune stimulants. [PDF]

J Biochem
Ozawa M, Hara S, Sakamoto M, Suzuki T, Niiyama S, Kakihana Y, Ichinose H.   +6 more
europepmc   +1 more source

Impact of Acute Antioxidant and Tetrahydrobiopterin (BH₄) Administration on Locomotor Muscle Microvascular Function in Patients With Heart Failure. [PDF]

Circ Heart Fail
Ratchford SM, Clifton HL, Gifford JR, LaSalle DT, Thurston TS, Bunsawat K, Alpenglow JK, Wright JB, Amann M, Ryan JJ, Wray DW.   +10 more
europepmc   +1 more source