Results 101 to 110 of about 2,210 (155)

Optimization and Validation of Plasma-Based Assay for Detection and Quantification of Monoamine Neurotransmitter Metabolites Using LC-MS/MS. [PDF]

ACS Omega
Tauro L, C G K, Singh N, Gowda VK, Mishra RK, Hamid R.   +5 more
europepmc   +1 more source

Cell type diversification and phenotype convergence underlying white fin-ornamentation of cyprinid fishes. [PDF]

Proc Natl Acad Sci U S A
Huang D, Liu T, Carr AA, de Mello PH, Liang Y, Shriver LP, Chauvigné F, Johnson SL, Cerdà J, Patti GJ, Parichy DM.   +10 more
europepmc   +1 more source

A comprehensive review of small molecule drugs approved by the FDA in 2025: advance and prospect. [PDF]

J Enzyme Inhib Med Chem
Bai YR, Li R, Zhang XH, Seng DJ, Xu Y, Zhang SY, Yuan S.   +6 more
europepmc   +1 more source

Sepiapterin reductase deWciency an autosomal recessive DOPA-responsive dystonia

, 2006
The diagnosis of a 14-year-old girl with a new homoallelic mutation in the sepiapterin reductase (SR) gene is reported. Initially she presented at the age of 2 with hypotonia and mild cognitive developmental delay, and was diagnosed as having mild ...
Beat Thöny e Nenad Blau, Marinus Duran, Jan Booij, Nico G Abeling, Poll-The, Lida Stroomer, Tien Bwee, Henk D Bakker   +7 more
core  

Sepiapterin: First Approval. [PDF]

Drugs
Lamb YN.
europepmc   +1 more source

From dietary restriction to disease-targeted therapy: Sephience TM (sepiapterin) in phenylketonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Sahira, Hujjat SFZ, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

Tetrahydrobiopterin enhances regulatory T- and mast cell proliferation and alters cytokines expression in a murine heart transplant model. [PDF]

Sci Rep
Ebner S, Texler B, Nardin F, Troppmair MR, Nguyen AV, Cardini B, Troppmair J, Schäfer G, Thalhammer-Thurner GC, Nirtl K, Lackner K, Alenina N, Öfner D, Schneeberger S, Watschinger K, Brandacher G, Werner ER, Maglione M.   +17 more
europepmc   +1 more source

Mechanism of auranofin toxicity: Inhibition of tetrahydrobiopterin metabolism. [PDF]

Toxicol Appl Pharmacol
Yang S, Jan YH, Richardson JR, Heck DE, Laskin JD.   +4 more
europepmc   +1 more source

Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India. [PDF]

Orphanet J Rare Dis
Hamid R, Gowda VK, Tauro L, Mishra R.
europepmc   +1 more source

The Metabolic Architecture of Glaucoma: A Unified Framework of Cofactor Failure and Kynurenine Dysregulation. [PDF]

Int J Mol Sci
Caikovska L, Veitners A, Lavrinovica D, Vanags J, Klavins K, Laganovska G, Zemitis A.   +6 more
europepmc   +1 more source