High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome

Autor: María Paz Guerrero‐Molina, Montserrat Morales‐Conejo, Aitor Delmiro, María Morán, Cristina Domínguez‐González, Elena Arranz‐Canales, Ana Ramos‐González, Joaquín Arenas, Miguel A. Martín, Jesús González de la Aleja

Publikováno v: European Journal of Neurology. 30:538-547

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder caused by mitochondrial DNA mutations. There are no disease-modifying therapies, and treatment remains mainly supportiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a28a4372a7d3c9c12cc5d01071c5e97
https://doi.org/10.1111/ene.15626

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

Autor: Elena Arranz Canales, Elisenda Cortès-Saladelafont, Elena Martín-Hernández, Ricardo Gil Sánchez, Guillem Pintos-Morell, Javier Blasco-Alonso, Mónica A. López Rodríguez, David Moreno-Martinez, Encarna Guillén-Navarro, María Juliana Ballesta-Martínez, María Teresa García-Silva, María L. Couce, Pilar Quijada-Fraile, Montserrat Morales Conejo, Salvador García Morillo, Marc Moltó-Abad

Publikováno v: ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Scientia

Background Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dcee367364b7e6201af39a9a13745d3
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15195

A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

Autor: Elena Martín-Hernández, Patricia Carnicero-Rodríguez, Laura Hernández-Sánchez, Francisco Javier Cotrina-Vinagre, Francisco Martínez-Azorín, Elena Arranz-Canales, Montserrat Morales-Conejo, Fátima Rodríguez-Fornés, Ana Martínez de Aragón, María Elena Rodríguez-García

Publikováno v: Journal of Genetics. 99

We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::59f43ce1bba49863717bae1605a4132c
https://doi.org/10.1007/s12041-019-1165-3

Cuadro ampolloso distal de inicio brusco y hemorragias en astilla

Autor: Diego Velasco-Rodríguez, María Castellanos-González, Francisco Vanaclocha-Sebastián, Elena Arranz-Canales

Publikováno v: Enfermedades Infecciosas y Microbiología Clínica. 32:398-399

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1ecfed5b6ffc56afbe744c6c0ef488a3
https://doi.org/10.1016/j.eimc.2013.10.012