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OBJECTIVES: I. Evaluate the efficacy of oral ribose in patients with a complex 5'-nucleotidase syndrome who have not received uridine (UR) and thymidine (TDR).
II. Evaluate the efficacy of UR/oral ribose and UR/TDR. III. Evaluate the efficacy of oral ribose given in combination with UR/TDR.
PROTOCOL OUTLINE: Newly identified patients receive ribose daily for 8 weeks. Patients who improve continue therapy. If improvement then reaches a plateau, uridine (UR) and thymidine (TDR) are added to the regimen.
Patients who receive no benefit after 8 weeks of ribose are treated with UR/TDR. Patients who improve after 8 weeks of this combination continue therapy.
Ribose is added to the treatment regimen for patients on UR/TDR at entry. At maximal improvement, TDR and UR are sequentially tapered.
Primary Purpose: Treatment
ribose, thymidine, uridine
Office of Rare Diseases (ORD)
Published on BioPortfolio: 2010-07-15T17:00:00-0400
To determine whether adding Ribose 5 grams 3 x day would improve quality of life, energy, sleep and cognitive function and decrease pain in patients with CFS and/or fibromyalgia (CFS/FMS).
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Thymidine phosphorylase (TP) is a rate-limiting enzyme in thymidine catabolism. TP has several important roles in biological and pharmacological mechanisms; importantly TP acts as an angiogenic factor...
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This unit describes a simple, reliable, and efficient chemical method for the synthesis of 5-(3-aminoallyl)-2'-deoxyuridine-5'-O-triphosphate (AA-dUTP) and 5-(3-aminoallyl)-uridine-5'-O-triphosphate (...
The enzyme catalyzing the transfer of 2-deoxy-D-ribose from thymidine to orthophosphate, thereby liberating thymidine. EC 220.127.116.11.
An enzyme that catalyzes the transfer of ribose from uridine to orthophosphate, forming uracil and ribose 1-phosphate. EC 18.104.22.168.
A group of uridine ribonucleotides in which the phosphate residues of each uridine ribonucleotide act as bridges in forming diester linkages between the ribose moieties.
An enzyme that catalyzes the conversion of ATP and thymidine to ADP and thymidine 5'-phosphate. Deoxyuridine can also act as an acceptor and dGTP as a donor. (From Enzyme Nomenclature, 1992) EC 22.214.171.124.
Enzymes that transfer the ADP-RIBOSE group of NAD or NADP to proteins or other small molecules. Transfer of ADP-ribose to water (i.e., hydrolysis) is catalyzed by the NADASES. The mono(ADP-ribose)transferases transfer a single ADP-ribose. POLY(ADP-RIBOSE) POLYMERASES transfer multiple units of ADP-ribose to protein targets, building POLY ADENOSINE DIPHOSPHATE RIBOSE in linear or branched chains.