| Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases B Xia, G Asif, L Arthur, MA Pervaiz, X Li, R Liu, RD Cummings, M He Clinical chemistry 59 (9), 1357-1368, 2013 | 77 | 2013 |
| Duvoglustat HCl increases systemic and tissue exposure of active acid α-glucosidase in Pompe patients co-administered with alglucosidase α P Kishnani, M Tarnopolsky, M Roberts, K Sivakumar, M Dasouki, ... Molecular Therapy 25 (5), 1199-1208, 2017 | 52 | 2017 |
| MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency MA Pervaiz, F Kendal, M Hegde, RH Singh Indian journal of human genetics 17 (1), 29, 2011 | 30 | 2011 |
| Sanger sequencing principles, history, and landmarks CA Valencia, MA Pervaiz, A Husami, Y Qian, K Zhang, CA Valencia, ... Next Generation Sequencing Technologies in Medical Genetics, 3-11, 2013 | 22 | 2013 |
| Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing SH Askree, LN Hjelm, MA Pervaiz, M Adam, LJH Bean, M Hedge, ... The Journal of Molecular Diagnostics 13 (1), 108-112, 2011 | 21 | 2011 |
| Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP) MA Pervaiz, A Eppolito, K Schmidt Familial cancer 9, 595-597, 2010 | 20 | 2010 |
| CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy HHA Khallaf, J Propst, S Geffrard, E Botha, MA Pervaiz JIMD Reports–Case and Research Reports, 2012/6, 133-137, 2013 | 16 | 2013 |
| A Non-classical Presentation of Tangier Disease with Three ABCA1 Mutations MA Pervaiz, G Gau, AS Jaffe, AK Saenger, L Baudhuin, J Ellison JIMD Reports-Case and Research Reports, 2012/1, 109-111, 2012 | 16 | 2012 |
| Next generation sequencing technologies in medical genetics CA Valencia, MA Pervaiz, A Husami, Y Qian, K Zhang Springer, 2013 | 14 | 2013 |
| Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria M Ali Pervaiz, MC Patterson, EA Struys, GS Salomons, C Jakobs, ... Journal of neurology 258, 1564-1565, 2011 | 8 | 2011 |
| A phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alfa-glucosidase in subjects with Pompe disease P Kishnani, M Tarnopolsky, K Sivakumar, M Roberts, B Byrne, ... Molecular Genetics and Metabolism 2 (108), S54, 2013 | 6 | 2013 |
| An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges HH Al Khallaf, M He, A Wittenauer, EE Woolley, M Cunto, MA Pervaiz Indian Journal of Human Genetics 19 (4), 483, 2013 | 4 | 2013 |
| TP 45 An ongoing phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha glucosidase in subjects with … P Kishnani, M Tarnopolsky, K Sivakumar, B Byrne, O Goker-Alpan, ... Neuromuscular Disorders 22 (9), 852, 2012 | 2 | 2012 |
| TP 45 An ongoing phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha glucosidase in subjects with … P Kishnani, M Tarnopolsky, K Sivakumar, B Byrne, O Goker-Alpan, ... Neuromuscular Disorders 22 (9), 852, 2012 | 2 | 2012 |
| A Review of DNA Enrichment Technologies CA Valencia, MA Pervaiz, A Husami, Y Qian, K Zhang, CA Valencia, ... Next Generation Sequencing Technologies in Medical Genetics, 25-32, 2013 | 1 | 2013 |
| AN ONGOING PHASE 2A STUDY TO INVESTIGATE THE EFFECT OF AT2220 (DUVOGLUSTAT HCL) ON THE PHARMACOKINETICS OF ACID ALPHA-GLUCOSIDASE IN SUBJECTS WITH POMPE DISEASE: PRELIMINARY … FK Johnson, P Kishnani, M Tarnopolsky, K Sivakumar, B Byrne, ... JOURNAL OF INHERITED METABOLIC DISEASE 35, S96-S96, 2012 | 1 | 2012 |
| An open-label, switchover trial to assess the safety and efficacy of agalsidase beta in patients with Fabry disease treated with agalsidase alfa enzyme replacement therapy S Richards, D Laney, MA Pervaiz, S Shankar Molecular Genetics and Metabolism 2 (111), S90, 2014 | | 2014 |
| Challenges of Next-Generation–Sequencing-Based Molecular Diagnostics CA Valencia, MA Pervaiz, A Husami, Y Qian, K Zhang, CA Valencia, ... Next Generation Sequencing Technologies in Medical Genetics, 87-94, 2013 | | 2013 |
| Next-Generation–Sequencing-Based Noninvasive Prenatal Diagnosis CA Valencia, MA Pervaiz, A Husami, Y Qian, K Zhang, CA Valencia, ... Next Generation Sequencing Technologies in Medical Genetics, 45-55, 2013 | | 2013 |
| Application of Next-Generation–Sequencing to the Diagnosis of Genetic Disorders: A Brief Overview CA Valencia, MA Pervaiz, A Husami, Y Qian, K Zhang, CA Valencia, ... Next Generation Sequencing Technologies in Medical Genetics, 35-43, 2013 | | 2013 |
