Results 161 to 170 of about 14,507 (223)

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation. [PDF]

Int J Mol Sci
Lotnik EE, Chukhrova AL, Ryadninskaya NV, Kadnikova VA, Zakharova EY, Baydakova GV, Osadchii AR, Anisimova IV, Voronin SV, Kutsev SI, Savostyanov KV, Bilalov FS, Koroteev AL, Trofimov DY, Bairova TA, Seitova GN, Mordanov SV, Matulevich SA, Golikhina TA, Nikolaeva EB, Polyakov AV, Shchagina OA.   +21 more
europepmc   +1 more source

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Obesity Risk. [PDF]

Genes (Basel)
Tummolo A, Tabaku O, Meneleo E, Pierri CL, De Grassi A, Di Tullio V, Paterno G, De Giovanni D.   +7 more
europepmc   +1 more source

Clinical, Biochemical, and Radiologic Profiles of Filipino Patients with 6-Pyruvoyl-Tetrahydrobiopterin Synthase (6-PTPS) Deficiency and their Neurodevelopmental Outcomes. [PDF]

Acta Med Philipp
de Castro-Hamoy LG, Moral MALA, Calotes-Castillo LV, Abacan MAR, Cordero CP, Pagaspas MLC, Maceda EBG, Estrada SC, Chiong MAD.   +8 more
europepmc   +1 more source

Cellular and Molecular Mechanisms of Vascular Endothelial Injury Induced by Cigarette Smoke and Cigarette Smoke Extract in Atherosclerosis. [PDF]

J Inflamm Res
Chen X, Yang X, Li Z, Sheng X.
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

Native metabolomics identifies pteridines as CutA ligands and modulators of copper binding. [PDF]

Proc Natl Acad Sci U S A
Wagner BC, Steuer-Lodd K, Geibel C, Stadelmann A, Rapp J, Link H, Schramm T, Boodaghian N, Hsiao A, Nussbaum E, Grenzendorfer HP, Albrecht R, Hartmann MD, Forchhammer K, Selim KA, Hughes CC, Petras D.   +16 more
europepmc   +1 more source

Rare biochemical & genetic conditions: clues for broader mechanistic insights. [PDF]

Cell Mol Life Sci
Mentis AA, Dalamaga M.
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

The Role of GCH1 Deficiency and Tetrahydrobiopterin in Mental Health. [PDF]

Int J Mol Sci
Williams GE, Hausman-Cohen S, Sotos M, Gutierrez E, Bilich C, Mueller FW, Jagshi S.   +6 more
europepmc   +1 more source