P. Quijada-Fraile

发表

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.

C. Pérez-Cerdá, E. Martín‐Hernández, V. Pérez-Alonso, 2012, JIMD reports.

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2019, European Journal of Human Genetics.

New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

J. Arenas, Miguel Ángel Martín, F. Martínez-Azorín, 2016, neurogenetics.

Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox–Gastaut Syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, Human mutation.

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.

Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

M. Ugarte, M. L. Couce, R. Yahyaoui, 2022, International journal of molecular sciences.

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.

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.

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

M. Couce, G. Pintos-Morell, E. Guillén-Navarro, 2021, Orphanet Journal of Rare Diseases.

Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.

B. Merinero, L. Peña-Quintana, J. Dalmau, 2015, JIMD reports.

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2014, Orphanet Journal of Rare Diseases.

Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

P. Sánchez-Pintos, M. L. Couce, L. Peña-Quintana, 2022, Journal of clinical medicine.

Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

M. Morales-Conejo, C. Pedrón‐Giner, M. García-Silva, 2022, Nutrients.

Neuroradiological Features of Six Patients with Propionic Acidemia

A. Camacho-Salas, M. García-Silva, E. Martín‐Hernández, 2017, Journal of Pediatric Neurology.

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.

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

J. Arenas, A. Delmiro, F. Martínez-Azorín, 2017, Clinical genetics.

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.

Chemotherapy in a Breast Cancer Patient Heterozygous Carrier of Ornithine Transcarbamylase Deficiency

L. Cabezón-Gutiérrez, S. Custodio-Cabello, Magda Palka-Kotlowska, 2020, Cureus.

Perioperative management of children with urea cycle disorders

E. Martín‐Hernández, P. Quijada-Fraile, Cristina Del Río, 2020, Paediatric anaesthesia.

Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry.

A. Lucia, J. Arenas, A. Santos-Lozano, 2016, Clinical nutrition.

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

J. Arenas, Miguel Ángel Martín, F. Martínez-Azorín, 2015, neurogenetics.

A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

J. Arenas, Miguel Ángel Martín, A. Delmiro, 2013, BMC Nephrology.

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

Robert W. Taylor, I. Hochberg, W. Newman, 2021, American journal of human genetics.

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2019, European Journal of Human Genetics.

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.

E. Rodrigues, O. Villate, G. Pintos-Morell, 2019, Journal of pharmaceutical and biomedical analysis.

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome

B. Merinero, A. Hernández-Laín, E. Martín‐Hernández, 2017, Journal of Inherited Metabolic Disease.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

B. D. de Vries, J. Dinman, F. Martínez-Azorín, 2023, Journal of Human Genetics.