| Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations H Erlandsen, AL Pey, A Gámez, B Pérez, LR Desviat, C Aguado, R Koch, ... Proceedings of the National Academy of Sciences 101 (48), 16903-16908, 2004 | 222 | 2004 |
| Delivery of oligonucleotide‐based therapeutics: challenges and opportunities SM Hammond, A Aartsma‐Rus, S Alves, SE Borgos, RAM Buijsen, ... EMBO molecular medicine 13 (4), e13243, 2021 | 211 | 2021 |
| The genetic landscape and epidemiology of phenylketonuria A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ... The American Journal of Human Genetics 107 (2), 234-250, 2020 | 193 | 2020 |
| Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAH AL Pey, LR Desviat, A Gámez, M Ugarte, B Pérez Human mutation 21 (4), 370-378, 2003 | 161 | 2003 |
| Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations AL Pey, B Pérez, LR Desviat, MA Martínez, C Aguado, H Erlandsen, ... Human mutation 24 (5), 388-399, 2004 | 159 | 2004 |
| Delivery is key: lessons learnt from developing splice‐switching antisense therapies C Godfrey, LR Desviat, B Smedsrød, F Piétri‐Rouxel, MA Denti, P Disterer, ... EMBO molecular medicine 9 (5), 545-557, 2017 | 158 | 2017 |
| Expression analysis of phenylketonuria mutations: effect on folding and stability of the phenylalanine hydroxylase protein A Gámez, B Pérez, M Ugarte, LR Desviat Journal of Biological Chemistry 275 (38), 29737-29742, 2000 | 121 | 2000 |
| Overview of mutations in the PCCA and PCCB genes causing propionic acidemia M Ugarte, C Pérez‐Cerdá, P Rodríguez‐Pombo, LR Desviat, B Pérez, ... Human mutation 14 (4), 275-282, 1999 | 105 | 1999 |
| Propionic acidemia: mutation update and functional and structural effects of the variant alleles LR Desviat, B Perez, C Perez-Cerda, P Rodriguez-Pombo, S Clavero, ... Molecular genetics and metabolism 83 (1-2), 28-37, 2004 | 103 | 2004 |
| Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC) E Richard, A Jorge‐Finnigan, J Garcia‐Villoria, B Merinero, LR Desviat, ... Human mutation 30 (11), 1558-1566, 2009 | 99 | 2009 |
| The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism ME Gallardo, LR Desviat, JM Rodríguez, J Esparza-Gordillo, ... The American Journal of Human Genetics 68 (2), 334-346, 2001 | 98 | 2001 |
| Maternal polymorphisms 677C‐T and 1298A‐C of MTHFR, and 66A‐G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels … ML Martínez‐Frías, B Pérez, LR Desviat, M Castro, F Leal, L Rodríguez, ... American Journal of Medical Genetics Part A 140 (9), 987-997, 2006 | 97 | 2006 |
| A Novel Regulatory Defect in the Branched‐Chain α‐Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant … A Oyarzabal, M Martínez‐Pardo, B Merinero, R Navarrete, LR Desviat, ... Human mutation 34 (2), 355-362, 2013 | 89 | 2013 |
| Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants MA Martínez, A Rincón, LR Desviat, B Merinero, M Ugarte, B Pérez Molecular genetics and metabolism 84 (4), 317-325, 2005 | 89 | 2005 |
| Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions LR Desviat, B Perez, A Gamez, A Sanchez, MJ Garcia, M Martinez-Pardo, ... European Journal of Human Genetics 7 (3), 386-392, 1999 | 84 | 1999 |
| Propionic acidemia: identification of twenty-four novel mutations in Europe and North America B Perez, LR Desviat, P Rodrıguez-Pombo, S Clavero, R Navarrete, ... Molecular genetics and metabolism 78 (1), 59-67, 2003 | 82 | 2003 |
| Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA A Rincon, C Aguado, LR Desviat, R Sanchez-Alcudia, M Ugarte, B Perez The American Journal of Human Genetics 81 (6), 1262-1270, 2007 | 80 | 2007 |
| Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype LR Desviat, B Pérez, A Bèlanger-Quintana, M Castro, C Aguado, ... Molecular genetics and metabolism 83 (1-2), 157-162, 2004 | 79 | 2004 |
| Organization of the murE-murG region of Escherichia coli: identification of the murD gene encoding the D-glutamic-acid-adding enzyme D Mengin-Lecreulx, C Parquet, LR Desviat, J Plá, B Flouret, JA Ayala, ... Journal of bacteriology 171 (11), 6126-6134, 1989 | 77 | 1989 |
| Potential relationship between genotype and clinical outcome in propionic acidaemia patients C Pérez-Cerdá, B Merinero, P Rodriguez-Pombo, B Pérez, LR Desviat, ... European Journal of Human Genetics 8 (3), 187-194, 2000 | 70 | 2000 |
