L. Gutiérrez-Solana

发表

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

F. Eichler, D. Zafeiriou, B. Echenne, 2012, Annals of neurology.

The view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus.

J. Torrent-Farnell, J. Poveda, I. Abaitua, 2018, Health policy.

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.

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

M. O'Callaghan, M. Couce, G. Pintos-Morell, 2018, Molecular genetics and metabolism reports.

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2011, neurogenetics.

Transition from pediatric care to adult care for patients with mucopolysaccharidosis

M. Couce, Á. Hermida-Ameijeiras, J. Pérez-López, 2018 .

Transition from paediatric care to adult care for patients with mucopolysaccharidosis.

M. Couce, Á. Hermida-Ameijeiras, M. del Toro, 2018, Revista clinica espanola.

Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement

M. Couce, J. Campistol, Á. H. Ameijeiras, 2016 .

Long-term open-label extension study of the safety and efficacy of intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II.

B. Burton, M. Inbar‐Feigenberg, J. Muenzer, 2022, Molecular genetics and metabolism.

Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.

B. Burton, M. Inbar‐Feigenberg, J. Muenzer, 2022, Molecular genetics and metabolism.

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Marta A. Uzarska, J. A. Arranz, F. Tort, 2011, American journal of human genetics.

A novel missense mutation in GRIN 2 A causes a non-epileptic neurodevelopmental disorder

S. Traynelis, Hongjie Yuan, S. J. Myers, 2022 .

A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder

S. Traynelis, Hongjie Yuan, S. J. Myers, 2018, Movement disorders : official journal of the Movement Disorder Society.

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

F. Ramos, O. Moldovan, M. Couce, 2019, Front. Neurosci..

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2018, International journal of molecular sciences.

Clinical, polysomnographic and laboratory characteristics of narcolepsy-cataplexy in a sample of children and adolescents.

J. García-Peñas, J. Vicario, P. López-Esteban, 2011, Sleep medicine.

Hunter Syndrome: Resolution of Extensive Typical Skin Lesions After 9 Months of Enzyme Replacement Therapy with Idursulfase

L. Gutiérrez-Solana, L. L. Marín, Antonio T. Fernández, 2012, Pediatric dermatology.

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

G. Pintos-Morell, R. Cancho-Candela, M. Martí-Herrero, 2010, European journal of medical genetics.

Neuroimaging findings in patient series with mucopolysaccharidosis.

A. Duat Rodríguez, L. González Gutiérrez-Solana, L. Gutiérrez-Solana, 2012 .

Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population.

L. López-Marín, Luis José Aldámiz Echevarri Azuara, L. Gutiérrez-Solana, 2013, JIMD reports.

A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project – a 2-year follow-up study

M. Couce, J. I. Alvarez, F. Sánchez-Valverde, 2017, Medicine.

[Characteristics and evolution of patients with Alice in Wonderland syndrome].

A. Duat‐Rodríguez, J. García-Peñas, V. Cantarín-Extremera, 2011, Revista de neurología (Ed. impresa).

Phenytoin-induced visual disturbances mimicking Delirium Tremens in a child.

J. García-Peñas, L. Gutiérrez-Solana, L. L. Marín, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

B. Banwell, S. Naidu, R. Weller, 2005, Annals of neurology.

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

M. Morado, F. D. Del Castillo, D. García-Seisdedos, 2019, JIMD reports.

Vanishing White Matter Disease in a Spanish Population

M. Pineda, V. Cusí, E. López‐Laso, 2014, Journal of central nervous system disease.

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

M. Gut, L. Pérez-Jurado, S. Beltran, 2022, Neurology.

Procalcitonin, a high acute phase reactant in antiepileptic hypersentivity syndrome in pediatric age.

M. R. Rojas, A. Duat‐Rodríguez, V. Cantarín-Extremera, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.

J. Arenas, Miguel Ángel Martín, P. Briones, 2005, Archives of neurology.

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

R. Rodenburg, L. P. Van den Heuvel, R. Leis, 2019, Journal of clinical medicine.

[Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene].

V. Cantarín-Extremera, M. Jiménez-Legido, B. Bernardino-Cuesta, 2019, Revista de neurologia.

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

D. Cuadras, B. Pérez-Dueñas, A. Macaya, 2017, Orphanet Journal of Rare Diseases.

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

F. Sedel, A. Ormazabal, R. Artuch, 2017, Scientific Reports.

Mitochondrial Disease in Children: The Nephrologist's Perspective.

M. Fernandez-Garcia, T. de Rojas, C. de Lucas Collantes, 2018, JIMD reports.

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

J. García-Peñas, J. Armstrong, M. Couce, 2016, Journal of Human Genetics.

Long-term normalization of cognitive and psychopathological alterations in a juvenile Niemann-Pick type C case.

L. Gutiérrez-Solana, L. L. Marín, V. Extremera, 2020, Neurodegenerative disease management.

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia

J. Casanova, F. Campelo, O. Boespflug-Tanguy, 2023, The Journal of clinical investigation.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

L. Pérez-Jurado, E. Mondragón, A. L. de Munain, 2023, Genome Medicine.

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

D. Cuadras, R. Artuch, M. Couce, 2018, Neuropediatrics.

The view of experts on initiatives to be undertaken to promote equity in the access to orphan drugs and specialised care for rare diseases in Spain: A Delphi consensus.

L. Lizán, J. Pérez-López, M. Comellas, 2018, Health policy.