7 X 11.5 Long Title.P65
Cambridge University Press 978-0-521-51781-2 - Small Molecule Therapy for Genetic Disease Edited by Jess G. Thoene Index More information Index Abderhalden, Emil, 101 long-term therapy results, 147–149 absolute oral bioavailability, 37 side effects, 147 acquired copper deficiency, 202–203 antagonists, 46 active tubular secretion, 43 apomorphine, 12 acute hereditary tyrosinemia, 115 apoptosis, in cysteamine treatment, for adenosine triphosphate (ATP) nephropathic cystinosis, 103 ATP7A, 203 apparent first-order kinetics, 40–41 distal hereditary motor neuropathy, apparent volume of distribution, 39 206–207 argininosuccinate lyase (AL) deficiency, Menkes disease, 203 135 OHS, 206 argininosuccinate synthetase (AS) nephropathic cystinosis, 103 deficiency, 135 agonists, 46 AS deficiency. See argininosuccinate AKU. See alkaptonuria synthetase deficiency AL deficiency. See argininosuccinate lyase ATP. See adenosine triphosphate deficiency ATP7A, 203 ALA. See aminolevulinic acid distal hereditary motor neuropathy, alkaptonuria (AKU), 114, 118–121 206–207 cardiac involvement, 119–120 Menkes disease, 203 clinical presentation, 119 OHS, 206 arthritis as, 119 diagnosis, 121 basal ganglion diseases, 60 dietary therapies, 120 biotin therapy, 66 genetic factors, 121 inheritance factors, 63 HGA, 118–119 Bench-To-Bedside Research Program, HPPD inhibition, 124 25 incidence rates, 118–119 betaine, in homocystinuria treatment, nitisinone therapy, 125 176–179 future developments, 130 clinical evidence of, 176–177 side effects, 127 development, 176–177 tyrosine levels,
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