P. Ruiz-Sala

发表

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.

Defining the pathogenicity of creatine deficiency syndrome

E. Richard, A. Ribes, B. Merinero, 2011, Human mutation.

A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

B. Merinero, M. Ugarte, P. Rodríguez-Pombo, 2010, Developmental medicine and child neurology.

Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

C. Pérez-Cerdá, R. Artuch, P. Ruiz-Sala, 2017 .

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.

Fungal Metabolic Model for Type I 3-Methylglutaconic Aciduria*

M. Ugarte, M. Peñalva, P. Ruiz-Sala, 2004, Journal of Biological Chemistry.

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.

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option

P. Lapunzina, C. Pérez-Cerdá, B. Merinero, 2013, Epilepsia.

Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

Belén Pérez, P. Rodríguez-Pombo, P. Ruiz-Sala, 2022, Orphanet Journal of Rare Diseases.

Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method

R. Artuch, G. Ruijter, J. García-Villoria, 2022, Antioxidants.

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2019, Journal of clinical medicine.

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

M. Ugarte, Belén Pérez, M. Martínez-Pardo Casanova, 2022, JIMD reports.

Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns

M. Ugarte, M. Martínez-Pardo Casanova, Álvaro Martín-Rivada, 2022, Journal of pediatric endocrinology & metabolism : JPEM.

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.

Triglyceride composition of ewe, cow, and goat milk fat

I. Martínez-Castro, M. Hierro, P. Ruiz-Sala, 1996 .

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Joaquín Dopazo, Rosa Navarrete, Anna López-Sala, 2014, Human mutation.

Two novel mutations in the BCKDK gene ( branched-chain keto-acid dehydrogenase kinase ) are responsible of a neurobehavioral deficit in two pediatric unrelated patients

Joaquín Dopazo, Joana, Rafael Artuch, 2014 .

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

B. Merinero, M. Ugarte, V. Kožich, 2015, Clinica chimica acta; international journal of clinical chemistry.

Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2014, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Successful Remote Monitoring During COVID-19 Pandemic of Patients with Inborn Errors of the Amino acid Metabolism not including PKU from a Single Reference center using Filter Paper Samples

F. Arrieta, P. Ruiz-Sala, A. Bélanger-Quintana, 2020 .

Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias.

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2007, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2018, JIMD reports.

Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

M. Ugarte, B. Pérez, C. Pedrón‐Giner, 2022, Journal of clinical medicine.

Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases

L. Peña-Quintana, P. Ruiz-Sala, 2021, Journal of clinical medicine.

Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2014, Nucleosides, nucleotides & nucleic acids.

Fungal Metabolic Model for 3-Methylcrotonyl-CoA Carboxylase Deficiency*

M. Ugarte, M. Peñalva, P. Ruiz-Sala, 2004, Journal of Biological Chemistry.

Extraction of ewe's milk cream with supercritical carbon dioxide

L. Alonso, P. Ruiz-Sala, G. Santa-María, 1995, Zeitschrift fur Lebensmittel-Untersuchung und -Forschung.

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

Mar Alvarez, E. Richard, Belén Pérez, 2023, International journal of molecular sciences.

Metabolic Serendipities of Expanded Newborn Screening

R. Yahyaoui, Belén Pérez, J. Blasco-Alonso, 2020, Genes.

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

R. Banerjee, Aurora Martínez, B. Merinero, 2013, Human molecular genetics.

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.

J. Hernández-Rivas, A. Balduini, I. García-Tuñón, 2022, Blood.

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.

Proteomics as Applied to Inherited Metabolic Diseases

E. Richard, M. Ugarte, B. Pérez, 2009 .

Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis

F. Santos-Simarro, M. Saénz de Pipaón, Belén Pérez, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

J. Dopazo, B. Merinero, M. Ugarte, 2014, Human mutation.