Results 131 to 140 of about 2,236 (202)

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency. [PDF]

J Inherit Metab Dis
Bondarenko MS, Kuseyri Hübschmann O, Kulhánek J, Pons R, Pearson TS, Jeltsch K, Badnjarevic I, Wassenberg T, Horvath G, Stevanovic G, Kurian MA, Cortès-Saladelafont E, Roubertie A, Leuzzi V, Bertoldi M, Mastrangelo M, Assmann B, THD Guidelines Working Group, Garcia-Cazorla A, Opladen T.   +19 more
europepmc   +1 more source

Mechanism of soil bacteria (Cupriavidus sp. LA-1) for degrading natural pterin and lumazine pigments. [PDF]

Commun Biol
Doi Y, Maeda N, Takaya N.
europepmc   +1 more source

NMR Studies of the Structures and Degradation of 8-(2’-Hydroxyethyl)Pterins

Pteridines, 1991
Jeong Soon-Seog, Gready Jill E.
doaj   +1 more source

Syntheses of optically active monapterin, 7,8-dihydromonapterin, and 5,6,7,8-tetrahydromonapterin from l-xylose. [PDF]

RSC Adv
Ghosh AK, Sharma A, Nagam S, Fuqua C.
europepmc   +1 more source

Aicardi-Goutières Syndrome Type 6: Case Report and Structural Prediction Supporting a Dominant-Negative Effect of the <i>ADAR1</i> c.<i>3019G</i>>A Variant. [PDF]

Clin Case Rep
Turan K, Pokorna P, Rihova K, Kubatova J, Kozelkova K, Hlouskova E, Danhofer P, Jabandziev P, Damborsky J, Demlova R, Slaby O, Slaba K.   +11 more
europepmc   +1 more source

Autosomal Recessive Guanosine Triphosphate Cyclohydrolase I Deficiency: Redefining the Phenotypic Spectrum and Outcomes. [PDF]

Mov Disord Clin Pract
Novelli M, Tolve M, Quiroz V, Carducci C, Bove R, Ricciardi G, Yang K, Manti F, Pisani F, Ebrahimi-Fakhari D, Galosi S, Leuzzi V.   +11 more
europepmc   +1 more source

Vitiligo-Current Treatment Options and Future Perspectives. [PDF]

Int J Mol Sci
Wojno A, Wojno A, Karwowska A, Chmielewska M, Maj J, Łyko M.   +5 more
europepmc   +1 more source

Pterins, Folates and Biogenic Amines in Neurology, Pediatrics and Immunology: Preface

Pteridines, 1991
Cotton Richard G. H., Nenad Cotton, Curtius Hans-Christoph, Levine Robert A.   +3 more
doaj   +1 more source

High-throughput Optical Analysis to Inform Design of Electrochemical Biosensors. [PDF]

ACS Meas Sci Au
Ricks NJ, Pence MA, Brachi M, Minteer SD.   +3 more
europepmc   +1 more source

Unraveling the structural and pigmentary mechanisms of UV color signal production in <i>Podarcis</i> wall lizards. [PDF]

iScience
Brejcha J, Ostatnický T, Pérez I de Lanuza G, Mojzeš P, Maršík P, Pilátová J, Vargicová T, Font E.   +7 more
europepmc   +1 more source