Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Rafael Artuch"'
Autor:
Belén Pérez, Esperanza Castejón, Aida Ormazabal, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez-Dueñas, Mireia Tondo, P. Sanz, Manuel Palacin, Loreto Martorell, Eduardo Calpena, Carmen Espinós, Gema Arriola, Magdalena Ugarte
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Our aim was to report two new cases of hyperlysinemia type I describing the clinical, biochemical and molecular features of the disease and the outcome of lysine restriction. Two children presented with febrile seizures followed by developmental dela
Autor:
J. Garcia-Villoria, Esperanza Castejón, Maria del Mar O’Callaghan, Rafael Artuch, Antonia Ribes, I.Vaz Matos, Angeles Garcia-Cazorla, Silvia Meavilla, Anna López-Sala
Publikováno v:
Molecular Genetics and Metabolism. 109:360-365
Background CblC deficiency produces a combination of methylmalonic aciduria (MMA) and homocystinuria (HCU), and is the most common error of cobalamin metabolism. Patients present a wide spectrum of symptoms, ranging from early severe multisystemic fo
Autor:
Sofia T. Duarte, Rafael Artuch, Angeles Garcia-Cazorla, Ana G. Pérez, E. Fernández-Álvarez, Mercedes Serrano, Mercedes Pineda, Aida Ormazabal, Zuhal Yapici, P. De Castro, Roser Pons, Carlos Ortez, R. Domingo-Jiménez
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
MOLECULAR GENETICS AND METABOLISM
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
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
MOLECULAR GENETICS AND METABOLISM
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
© 2014 Elsevier Inc. All rights reserved.
Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type "B": early onset severe encephalopat
Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type "B": early onset severe encephalopat
Autor:
Angeles Ruiz, Miquel Fiol, Judit García-Villoria, Rafael Artuch, Aida Ormazabal, Aleix Navarro-Sastre, Antonia Ribes, Maria Antonia Vilaseca, Johannes Zschocke
Publikováno v:
Molecular Genetics and Metabolism. 93:216-218
We present a patient with severe pyridox(am)ine 5'-phosphate oxidase deficiency and homozygosity for a novel nonsense-mutation, p.A174X, in the PNPO gene who died with pyridoxal phosphate (PLP) treatment despite initial clinical recovery. He presente
Autor:
Anna López-Sala, Antonia Ribes, M. A. Vilaseca, L. Ozaez, Jaime Campistol, Angela Arias, M. Lluch, Angela Sempere, Carmen Fons, Rafael Artuch, J. Garcia-Villoria, A. Mas, Mercedes Pineda, P Póo
Publikováno v:
Molecular genetics and metabolism. 99(3)
Creatine transporter (CRTR) deficiency is one of the most frequent causes of X-linked mental retardation. The lack of an effective treatment for this disease, in contrast to creatine (Cr) biosynthesis disorders that respond to Cr monohydrate (CM), le
Autor:
Angels García-Cazorla, Rafael Artuch, Keith Hyland, Jaume Campistol, Angeles Ruiz, Mercedes Serrano, Peter E. Clayton, Juan Antonio Moreno, Marcus Oppenheim, Simon Heales, Antonia Ribes, Aida Ormazabal
Publikováno v:
Molecular genetics and metabolism. 94(2)
Our aim was to establish reference values for cerebrospinal fluid (CSF) pyridoxal 5′-phosphate (PLP) in a paediatric population for the diagnosis of pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency. For reference values, CSF samples from 113
Autor:
Marta Ribasés, Bru Cormand, Mercedes Serrano, Aida Ormazabal, Jaume Campistol, Emilio Fernández-Alvarez, Angels García-Cazorla, Rafael Artuch, Sandra Pahisa, Belén Pérez-Dueñas
Publikováno v:
Molecular genetics and metabolism. 92(3)
We report a recessive mutation in the tyrosine hydroxylase gene (TH) promoter (c.1-71C>T), present at homozygosity in a patient with dopa-responsive encephalopathy. The change lies in a cAMP response element (CRE) and alters a binding site for the CR
Autor:
N. Lambruschini, Belén Pérez-Dueñas, Maria Antonia Vilaseca, Rafael Artuch, Jaume Campistol, Alejandra Gutiérrez, Rosa Gassió, Lilian Gómez, A. Mas
Publikováno v:
Molecular genetics and metabolism. 86
The clinical, nutritional, and neuropsychological data of 11 mild/moderate PKU patients after one year of treatment with BH4 are evaluated. BH4 monotherapy was introduced at 5 mg/kg/day in 14 PKU patients. In 11/14 patients, Phe tolerance increased s