L. Desviat

发表

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.

E. Richard, M. Ugarte, B. Pérez, 2022, Biochimica et biophysica acta. Molecular basis of disease.

Expression analysis of mutation P244L, which causes mild hyperphenylalaninemia

M. Ugarte, B. Pérez, L. Desviat, 1995, Human mutation.

Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

M. Couce, A. Fernández-Marmiesse, B. Pérez, 2013, Gene.

Molecular basis of phenylketonuria in Venezuela: Presence of two novel null mutations

M. Ugarte, B. Pérez, L. Desviat, 1998, Human mutation.

Spectrum and origin of phenylketonuria mutations in Spain

M. Ugarte, B. Pérez, L. Desviat, 1994, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

C. Pérez-Cerdá, B. Merinero, M. Martínez-Pardo, 2008, Journal of Inherited Metabolic Disease.

Phenylketonuria in Spanish Gypsies: Prevalence of the IVS10nt546 mutation on haplotype 34

M. Ugarte, B. Pérez, L. Desviat, 1997, Human mutation.

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2004, Molecular genetics and metabolism.

Relationship between Mutation Genotype and Biochemical Phenotype in a Heterogeneous Spanish Phenylketonuria Population

M. Martínez-Pardo, M. Ugarte, M. Couce, 1997, European journal of human genetics : EJHG.

Mutation analysis of phenylketonuria in South Brazil

M. Ugarte, R. Giugliani, R. Pires, 1996, Human mutation.

Presence of the Mediterranean PKU mutation IVS10 in Latin America.

H. Nicolini, M. Ugarte, N. Chamoles, 1993, Human molecular genetics.

Molecular basis of non-PKU hyperphenylalaninaemia in Spain: Prevalence of A403V, a mutation with high residual activity

M. Ugarte, B. Pérez, L. Desviat, 1996, Journal of Inherited Metabolic Disease.

Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

M. Ugarte, B. Pérez, L. Desviat, 1997, American journal of human genetics.

Molecular characterization of phenylalanine hydroxylase deficiency in Chile

M. Ugarte, B. Pérez, L. Desviat, 1999, Human mutation.

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

E. Richard, C. Pérez-Cerdá, A. Ribes, 2000, European Journal of Human Genetics.

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

S. Rodríguez de Córdoba, J. Esparza-Gordillo, C. Pérez-Cerdá, 2003, Molecular genetics and metabolism.

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

M. Martínez-Pardo, M. Ugarte, A. Gámez, 1999, European Journal of Human Genetics.

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

E. Richard, B. Merinero, M. Ugarte, 2009, Human mutation.

Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway

E. Richard, M. Ugarte, A. Álvarez-Barrientos, 2007, The Journal of pathology.

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

R. Banerjee, E. Richard, B. Merinero, 2015, Clinical genetics.

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2014, Clinical genetics.

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

D. Morton, J. Esparza-Gordillo, C. Pérez-Cerdá, 2001, American journal of human genetics.

Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2015, Clinical genetics.

Molecular basis of phenylketonuria in Cuba

M. Ugarte, B. Pérez, E. Gutiérrez, 2001, Human mutation.

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism

S. D. Jong, C. Pérez-Cerdá, M. Ugarte, 2010, Journal of Inherited Metabolic Disease.