| Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease YH Messinger, NJ Mendelsohn, W Rhead, D Dimmock, E Hershkovitz, ... Genetics in medicine 14 (1), 135-142, 2012 | 227 | 2012 |
| Natural history of rhizomelic chondrodysplasia punctata AL White, P Modaff, F Holland‐Morris, RM Pauli American Journal of Medical Genetics Part A 118 (4), 332-342, 2003 | 131 | 2003 |
| The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease AJ Guenzel, CT Turgeon, KK Nickander, AL White, DS Peck, GB Pino, ... Genetics in Medicine 22 (6), 1108-1118, 2020 | 45 | 2020 |
| Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I DS Peck, JM Lacey, AL White, G Pino, AL Studinski, R Fisher, A Ahmad, ... International Journal of Neonatal Screening 6 (1), 10, 2020 | 35 | 2020 |
| Biochemical diagnosis of acute hepatic porphyria: updated expert recommendations for primary care physicians KE Anderson, R Lobo, D Salazar, M Schloetter, G Spitzer, AL White, ... The American Journal of the Medical Sciences 362 (2), 113-121, 2021 | 29 | 2021 |
| Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria G Pino, E Conboy, S Tortorelli, S Minnich, K Nickander, J Lacey, D Peck, ... Molecular genetics and metabolism 129 (2), 106-110, 2020 | 11 | 2020 |
| Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation S Shimada, BG Ng, AL White, KK Nickander, C Turgeon, KL Liedtke, ... Journal of medical genetics 59 (11), 1104-1115, 2022 | 4 | 2022 |
| Very-long-chain acyl-CoA dehydrogenase (VLCAD), 2-methylbutyryl-AD (2-MBAD), short chain-AD (SCAD), and 3-methylerotonyl CoA carboxylase (3-MCC) deficiencies: newborn screening … WJ Rhead, A White, D Allain, H Lindh, K Hanson, S van Calcar, J Wolff MOLECULAR GENETICS AND METABOLISM 81 (3), 186-186, 2004 | 4 | 2004 |
| Cardiomyopathy as the presenting feature in a 15-year-old boy with propionic acidemia WJ Rhead, A White, D Matern, J Kraus, M Ugarte JOURNAL OF INHERITED METABOLIC DISEASE 30, 35-35, 2007 | 3 | 2007 |
| Creating genetics-based infusion centers: a case study of two models DJ Laney, AL White, WJ Rhead, P Fernhoff Genetics in Medicine 10 (8), 626-632, 2008 | 2 | 2008 |
| Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants J Rosati, J Johnson, Z Stander, A White, S Tortorelli, D Bailey, CT Fong, ... American Journal of Medical Genetics Part A 191 (3), 842-845, 2023 | 1 | 2023 |
| eP033: COASY-associated pontocerebellar hypoplasia–A possible additional secondary target detectable by expanded newborn screening? Z Stander, J Rosati, J Johnson, BH Lee, CT Fong, D Bailey, S Tortorelli, ... Genetics in Medicine 24 (3), S22, 2022 | 1 | 2022 |
| Disorders of porphyrin metabolism S Tortorelli, AL White, K Raymond Biochemical and Molecular Basis of Pediatric Disease, 503-528, 2021 | 1 | 2021 |
| A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders PJ Wegwerth, AL White, SD Stoway, PR Loken, D Oglesbee, D Matern, ... Journal of inherited metabolic disease 46 (6), 1159-1169, 2023 | | 2023 |
| GLUCOSYLSPHINGOSINE AS AN AID TO THE IDENTIFICATION OF NEWBORNS WITH GAUCHER DISEASE G Pino, D Peck, A Studinski, A White, D Gavrilov, D Oglesbee, S Tortorelli, ... Molecular Genetics and Metabolism 138 (3), 107469, 2023 | | 2023 |
| O03: Exploiting narrow therapeutic windows: Utility of the urine purines and pyrimidines test for molybdenum cofactor deficiency A patients D Gerald, S Tortorelli, A White, D Peck, G Pino, A Studinski, J Eckerman, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| Clinical availability of functional assays: Identifying assays at risk and pathways to ensure appropriate patient care P Hall, D Peck, G Pino, A Studinski, A White, D Gavrilov, D Matern, ... | | 2023 |
| eP038: A new biochemical assay to measure plasmalogens with CLIR disease differentiation P Wegwerth, D Gavrilov, A White, D Matern, P Rinaldo, D Oglesbee, ... Genetics in Medicine 24 (3), S25, 2022 | | 2022 |
| Comparison of psychosine analysis in dried blood spots and red blood cells from children with Krabbe disease AL White, ML Escolar, D Peck, G Pino, A Studinski, GE Hoganson, ... Molecular Genetics and Metabolism 135 (2), S127, 2022 | | 2022 |
| The synergy of multiplex testing to screen for lysosomal disorders (LD) G Pino, K Nickander, A Studinski, D Peck, A White, J Lacey, D Gavrilov, ... Molecular Genetics and Metabolism 135 (2), S98-S99, 2022 | | 2022 |
