M. Martínez-Pardo

发表

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.

C. Pérez-Cerdá, J. Pié, N. Casals, 1998, Archives of biochemistry and biophysics.

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

L. Pérez-Jurado, B. Merinero, M. Martínez-Pardo, 2010, Mitochondrion.

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.

M. Martínez-Pardo, M. Ugarte, M. J. García, 2005, Molecular genetics and metabolism.

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 Phenotype of Maple Syrup Urine Disease

B. Merinero, M. Martínez-Pardo, M. Ugarte, 2013, Human mutation.

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

M. Martínez-Pardo, M. del Valle, P. Ruiz-Sala, 2022, Amino Acids.

BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor.

M. Martínez-Pardo, M. Ugarte, B. Pérez, 2007, Clinica chimica acta; international journal of clinical chemistry.

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.

M. Martínez-Pardo, M. Ugarte, M. J. García, 2004, Molecular genetics and metabolism.

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.

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

C. Pérez-Cerdá, M. Martínez-Pardo, M. Ugarte, 2019, Clinical genetics.

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.

Physical development in patients with phenylketonuria on dietary treatment: a retrospective study.

M. Martínez-Pardo, A. Bélanger-Quintana, M. Martínez‐Pardo, 2011, Molecular genetics and metabolism.

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

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

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

C. Pérez-Cerdá, M. Martínez-Pardo, M. Couce, 2014, Orphanet Journal of Rare Diseases.

Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

M. Martínez-Pardo, P. Ruiz-Sala, A. Bélanger-Quintana, 2022, Antioxidants.

A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome

M. Durán, C. Pérez-Cerdá, S. K. Wadman, 1984, Journal of Inherited Metabolic Disease.

Results of neonatal and selective screening for biotinidase deficiency

C. Pérez-Cerdá, B. Merinero, M. Martínez-Pardo, 1987, Journal of Inherited Metabolic Disease.

Hyperammonaemia as a cause of psychosis in an adolescent

M. Martínez-Pardo, M. Ugarte, B. Wermuth, 2003, European Journal of Pediatrics.

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.

Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up

M. Martínez-Pardo, A. Andres, F. Hernández, 2014, Journal of pediatric gastroenterology and nutrition.

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

M. Orozco, J. Gelpí, A. Ribes, 2000, Pediatric Research.

Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance

M. Martínez-Pardo, F. Arrieta, A. Bélanger-Quintana, 2021, Orphanet Journal of Rare Diseases.

Severe Anemia in Patients with Propionic Acidemia is Associated with Low Plasma Levels of Valine, Isoleucine and Methionine

M. Martínez-Pardo, F. Arrieta, A. Bélanger-Quintana, 2020 .

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

M. Martínez-Pardo, L. Vilarinho, M. Couce, 2006, Journal of Human Genetics.

[Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis].

M. Martínez-Pardo, A. G. García Pérez, M. A. Martínez Granero, 2005, Neurología.

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

M. Martínez-Pardo, L. Vilarinho, M. Couce, 2007, Journal of Human Genetics.

Intestinal lactase evaluation in vivo with 3‐methyllactose

A. Sols, M. Martínez-Pardo, M. Martín‐Lomas, 1979, FEBS letters.

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

C. Pérez-Cerdá, M. Martínez-Pardo, M. Ugarte, 2013, Journal of Inherited Metabolic Disease.