Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

Autor: Patrick F. Chinnery, Carlo Dionisi-Vici, Adrian C. Sewell, Barbara Plecko, Jose M. Trejo-Gabriel-Galán, Ute Spiekerkoetter, Jürgen Christoph von Kleist-Retzow, Eugen Mengel, Patricie Burda, Megumi Tsuji, Regina Mulder-Bleile, Maria Antonia Vilaseca, Beat Steinmann, Brian Fowler, Rossella Parini, Alexander Lossos, Gülden Gökçay, Valerie Walker, Mübeccel Demirkol, Johannes Häberle, D. Sean Froese, Dariusz Rokicki, Andrew A. M. Morris, Bruria Ben Zeev, Grazia Taddeucci, Dries Dobbelaere, Jiri Zeman, Terttu Suormala, Wolfgang Sperl, Friedrich K. Trefz, Matthias R. Baumgartner, Mareike Schimmel, K. E. Niezen-Koning, Manuel Schiff, Martina Huemer

Publikováno v: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 39(1), 115-124. SPRINGER

BACKGROUND: Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare (1.5% control) in vitro residual enzyme activity had mainly psychiatric symptoms, mental retardation, myelopathy, ataxia and spasticity. Treatment with various combin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dde7d103e5d38e4744894aa67edb4b54
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13399

Clinical, Genetic, and Therapeutic Diversity in 2 Patients With Severe Mevalonate Kinase Deficiency

Autor: Maria Antonia Vilaseca, Ana María Baña Souto, Jordi Yagüe, Angeles Torres, Angeles Ruiz Gomez, Judit García-Villoria, Antonia Ribes, María L. Couce, Juan I. Aróstegui

Publikováno v: Pediatrics. 129:e535-e539

Mevalonic aciduria (MA) represents the severest form of mevalonate kinase deficiency due to recessively inherited, loss-of-function MVK mutations. MA is an early-onset disorder characterized by a marked failure to thrive, diverse neurologic symptoms,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3955258717e45f5057b6ade5054a7b2
https://doi.org/10.1542/peds.2010-2192

Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

Autor: María E. Fusté, Rosa Gassió, Maria Antonia Vilaseca, Maria Julieta González, Jaume Campistol, Alfonso Pablo Gutiérrez

Publikováno v: Molecular Genetics and Metabolism. 104:S73-S79

To investigate the relationship between neurological complications, neuroradiological findings, and behavioral problems, age at diagnosis and dietary control along the follow-up of the PKU patients in our metabolic unit.Retrospective study of the PKU

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ea71d64d8f3697964cdb10c0e74240
https://doi.org/10.1016/j.ymgme.2011.07.015

Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

Autor: Ester Quintana, Aleix Navarro-Sastre, Mercedes Casado, Rafael Artuch, Raquel Montero, Maria Antonia Vilaseca, Paz Briones

Publikováno v: Journal of Chromatography B. 877:2513-2518

Transferrin isoelectric focusing (IEF) is the most widely used method to screen for congenital disorders of glycosylation (CDG). Our aim was to compare high performance liquid chromatography (HPLC) and capillary zone electrophoresis (CZE) procedures

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5229f9ddd9d6a99f47615bdc56c4c4b
https://doi.org/10.1016/j.jchromb.2009.06.031

A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1)

Autor: Eduardo Ruiz-Pesini, Mercedes Benac, Magdalena Carreras, Mercedes Pineda, Rafael Artuch, Julio Montoya, Manuel J. López-Pérez, Ester López-Gallardo, Maria Antonia Vilaseca, Miguel Angel Idoate, Paz Briones, Maria Dolores Herrero-Martín

Publikováno v: Human Mutation. 29:E112-E122

A disorder of mitochondrial energy metabolism may be missed in children with a very mild phenotype. Here, we described a patient with a moderate mental retardation and a mild exercise intolerance. This child harboured a mtDNA transition (m.6955G>A) i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f8af7a319e307c3ff515ebe9c7ea4f2
https://doi.org/10.1002/humu.20800