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REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFUnnatural Amino Acids: Strategies, Designs, and Applications in Medicinal Chemistry and Drug Discovery.
J Med Chem
November 2024
Department of Medicinal Chemistry, National Institute of Pharmaceutical Education and Research, Sector 67, S. A. S., Nagar, Punjab 160 062, India.
Peptides can operate as therapeutic agents that sit within a privileged space between small molecules and larger biologics. Despite examples of their potential to regulate receptors and modulate disease pathways, the development of peptides with drug-like properties remains a challenge. In the quest to optimize physicochemical parameters and improve target selectivity, unnatural amino acids (UAAs) have emerged as critical tools in peptide- and peptidomimetic-based drugs.
View Article and Find Full Text PDFA 4-Year Follow-Up of Levodopa-Entacapone-Carbidopa Intestinal Gel Treatment in Parkinson's Disease.
Mov Disord Clin Pract
December 2024
Department of Medical Sciences, Neurology, Uppsala University, Uppsala, Sweden.
Background: Levodopa-entacapone-carbidopa intestinal gel (LECIG) infusion was introduced to the Swedish market in 2019 for Parkinson's disease (PD) with motor fluctuations. Long-term data are lacking.
Objectives: To study long-term data on LECIG treatment.
Measurement of 3-O-methyldopa from dried plasma microsamples by high-resolution mass spectrometry: A tool for the diagnosis of patients with high-risk neuroblastoma.
Clin Chim Acta
January 2025
Unit of Biochemistry, Pharmacology and Newborn Screening, Central Laboratory of Analysis, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Risk assessment at diagnosis is crucial for neuroblastoma (NB) in order to address patients at high-risk to the most timely and appropriate treatments. 3-O-methyldopa (3-OMD), a direct metabolite of L-Dopa, is a promising biomarker of NB at diagnosis able to stratify high-risk patients.
Methods: We show the development and validation of a method for measuring 3-OMD from dried plasma samples (DPS) and plasma using liquid chromatography coupled with high resolution mass spectrometry (LC-HRMS) on a Thermo Fisher Scientific Orbitrap Exploris 120.
Continuous subcutaneous levodopa-carbidopa infusion for Parkinson's disease - Authors' reply.
Lancet Neurol
September 2024
University of Toulouse 3, University Hospital of Toulouse, INSERM, Clinical Investigation Center CIC1436, Department of Neurosciences and Department of Clinical Pharmacology, Toulouse, France; NS-Park/FCRIN Network, Toulouse, France.
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