Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo’s oil HW Moser, GV Raymond, SE Lu, LR Muenz, AB Moser, J Xu, RO Jones, ... Archives of neurology 62 (7), 1073-1080, 2005 | 299 | 2005 |
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method WC Hubbard, AB Moser, AC Liu, RO Jones, SJ Steinberg, F Lorey, ... Molecular genetics and metabolism 97 (3), 212-220, 2009 | 187 | 2009 |
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism S Ferdinandusse, KD Falkenberg, J Koster, PA Mooyer, R Jones, ... Journal of medical genetics 54 (5), 330-337, 2017 | 115 | 2017 |
The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders KB Law, D Bronte-Tinkew, E Di Pietro, A Snowden, RO Jones, A Moser, ... Autophagy 13 (5), 868-884, 2017 | 95 | 2017 |
Newborn screening for X-linked adrenoleukodystrophy AB Moser, RO Jones, WC Hubbard, S Tortorelli, JJ Orsini, M Caggana, ... International journal of neonatal screening 2 (4), 15, 2016 | 88 | 2016 |
Loss or Gain of Function Mutations in ACOX1 Cause Axonal Loss Via Different Mechanisms H Chung, MF Wangler, P Marcogliese, J Jo, T Ravenscoft, L Duraine, ... | 84 | 2019 |
Evaluation of the preventive effect of glyceryl trioleate-trierucate (“Lorenzo’s oil”) therapy in X-linked adrenoleukodystrophy: results of two concurrent trials HW Moser, GV Raymond, W Koehler, P Sokolowski, F Hanefeld, ... Peroxisomal disorders and regulation of genes, 369-387, 2003 | 79 | 2003 |
Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial AM Paker, JS Sunness, NH Brereton, LJ Speedie, L Albanna, ... Neurology 75 (9), 826-830, 2010 | 70 | 2010 |
Newborn screening for X-linked adrenoleukodystrophy: further evidence high throughput screening is feasible C Theda, K Gibbons, TE DeFor, PK Donohue, WC Golden, AD Kline, ... Molecular genetics and metabolism 111 (1), 55-57, 2014 | 63 | 2014 |
Emerging recombinant noroviruses identified by clinical and waste water screening JH Lun, J Hewitt, A Sitabkhan, JS Eden, D Enosi Tuipulotu, NE Netzler, ... Emerging Microbes & Infections 7 (1), 1-14, 2018 | 56 | 2018 |
Investigational methods for peroxisomal disorders S Steinberg, R Jones, C Tiffany, A Moser Current protocols in human genetics 58 (1), 17.6. 1-17.6. 23, 2008 | 56 | 2008 |
Neonatal detection of Aicardi Goutières syndrome by increased C26: 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots T Armangue, JJ Orsini, A Takanohashi, F Gavazzi, A Conant, N Ulrick, ... Molecular genetics and metabolism 122 (3), 134-139, 2017 | 45 | 2017 |
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers MF Wangler, L Hubert, TR Donti, MJ Ventura, MJ Miller, N Braverman, ... Genetics in Medicine, 2018 | 43 | 2018 |
Combined extraction of acyl carnitines and 26: 0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy Y Sandlers, AB Moser, WC Hubbard, LE Kratz, RO Jones, GV Raymond Molecular genetics and metabolism 105 (3), 416-420, 2012 | 42 | 2012 |
Increased dietary intake of saturated fatty acid heptadecanoic acid (C17: 0) associated with decreasing ferritin and alleviated metabolic syndrome in dolphins SK Venn-Watson, C Parry, M Baird, S Stevenson, K Carlin, R Daniels, ... PloS one 10 (7), e0132117, 2015 | 40 | 2015 |
Newborn screening for adrenoleukodystrophy: implications for therapy GV Raymond, RO Jones, AB Moser Molecular diagnosis & therapy 11, 381-384, 2007 | 37 | 2007 |
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing MJ Ventura, D Wheaton, M Xu, D Birch, SJ Bowne, LS Sullivan, SP Daiger, ... Molecular genetics and metabolism reports 9, 75-78, 2016 | 36 | 2016 |
Dendrimer–N‐acetyl‐L‐cysteine modulates monophagocytic response in adrenoleukodystrophy BR Turk, CL Nemeth, JS Marx, C Tiffany, R Jones, B Theisen, ... Annals of neurology 84 (3), 452-462, 2018 | 30 | 2018 |
Role of intestinal fluid in restitution of blood volume and plasma protein after hemorrhage in awake rats DN Darlington, RO Jones, TA Magnuson, DS Gann American Journal of Physiology-Regulatory, Integrative and Comparative …, 1995 | 29 | 1995 |
Changes in regional vascular resistance and blood volume after hemorrhage in fed and fasted awake rats DN Darlington, RO Jones, L Marzella, DS Gann Journal of applied physiology 78 (6), 2025-2032, 1995 | 26 | 1995 |