Results overview: Found 4 records in 0.02 seconds.
Articles, 2 records found
Research literature, 2 records found
Articles 2 records found  
1.
16 p, 3.8 MB Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia / Tuschl, Karin (University College London. Institute of Child Health) ; Meyer, Esther (University College London. Institute of Child Health) ; Valdivia, Leonardo E. (University College London. Department of Cell and Developmental Biology) ; Zhao, Ningning (Oregon Health and Science University. Department of Cell, Development and Cancer Biology) ; Dadswell, Chris (University of Sussex. Department of Chemistry, School of Life Sciences) ; Abdul-Sada, Alaa (University of Sussex. Department of Chemistry, School of Life Sciences) ; Hung, Christina Y. (Harvard Medical School. Division of Genetics and Genomics) ; Simpson, Michael A. (King's College London School of Medicine. Division of Genetics and Molecular Medicine) ; Chong, W.K. (Great Ormond Street Hospital for Children. Department of Radiology (Londres)) ; Jacques, Thomas S. (Great Ormond Street Hospital for Children. Department of Histopathology (Londres)) ; Woltjer, Randy L. (Oregon Health and Science University. Department of Pathology) ; Eaton, Simon (University College London. Institute of Child Health) ; Gregory, Allison (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Sanford, Lynn (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Kara, Eleanna (University College London. Institute of Neurology) ; Houlden, Henry (University College London. Institute of Neurology) ; Cuno, Stephan M. (Technical University of Munich. Institute of Human Genetics) ; Prokisch, Holger (Technical University of Munich. Institute of Human Genetics) ; Valletta, Lorella (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Tiranti, Valeria (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Younis, Rasha (University of Birmingham. Department of Medical and Molecular Genetics) ; Maher, Eamonn R. (University of Birmingham. Centre for Rare Diseases and Personalised Medicine) ; Spencer, John (University of Sussex. Department of Chemistry, School of Life Sciences) ; Straatman Iwanowska, Ania (University College London. Laboratory for Molecular Cell Biology and Cell Biology Unit) ; Gissen, Paul (University College London. Institute of Child Health) ; Selim, Laila A.M. (Cairo University Children's Hospital. Department of Paediatric Neurology) ; Pintos Morell, Guillem (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Coroleu Lletget, Wifredo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mohammad, Shekeeb S. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Yoganathan, Sangeetha (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Dale, Russell C. (University of Sydney. Institute for Neuroscience and Muscle Research) ; Thomas, Maya (Christian Medical College Hospital. Department of Neurological Sciences (Vellore, Índia)) ; Rihel, Jason (University College London. Department of Cell and Developmental Biology) ; Bodamer, Olaf A. (Harvard Medical School. Division of Genetics and Genomics) ; Enns, Caroline A. (Oregon Health & Sciences University. Department of Cell, Development and Cancer Biology) ; Hayflick, Susan J. (Oregon Health and Science University. Department of Molecular and Medical Genetics) ; Clayton, Peter T. (University College London. Institute of Child Health) ; Mills, Philippa B. (University College London. Institute of Child Health) ; Kurian, Manju A. (University College London. Institute of Child Health) ; Wilson, Stephen W. (University College London. Department of Cell and Developmental Biology)
Although manganese is an essential trace metal, little is known about its transport and homeostatic regulation. Here we have identified a cohort of patients with a novel autosomal recessive manganese transporter defect caused by mutations in SLC39A14. [...]
2016 - 10.1038/ncomms11601
Nature communications, Vol. 7 Núm. 11601 (May 2016)  
2.
11 p, 1.5 MB Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey / Barba Romero, Miguel Ángel (Universidad de Castilla-La Mancha. Departamento de Medicina Interna) ; Pintos Morell, Guillem (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia, Ginecologia i de Medicina Preventiva)
Both male/female patients with Fabry disease (FD) may receive enzyme replacement therapy (ERT). Previously published analyses of the Fabry Outcome Survey (FOS; Shire-sponsored) database suggested gender differences in timing of ERT initiation. [...]
2016 - 10.3390/ijms17121965
International Journal of Molecular Sciences, Vol. 17 Núm. 12 (November 2016)  

Research literature 2 records found  
1.
190 p, 1.1 MB Mitochondrial disorders in childhood : from general characteristics to new aspects / García Cazorla, Àngels ; Pintos Morell, Guillem, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia, Ginecologia i de Medicina Preventiva)
Las enfermedades mitocondriales pueden ser englobadas dentro de las enfermedades raras de la edad pediátrica. Esta tesis recoge aspectos clínicos, bioquímicos y genéticos de 241 pacientes con enfermedades mitocondriales diagnosticados en el hospital «Necker-Enfants Malades, Paris», en el período comprendido entre los años 1977 al 2002. [...]
Mitochondrial disorders are rare causes of disease in childhood. This thesis reports clinical, biochemical and genetic aspects of 241 paediatric patients with mitochondrial disorders diagnosed in the «Hôpital Necker-Enfants Malades, Paris» from 1977 to 2002. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2007  
2.
111 p, 1.9 MB El Sistema TNF-[alfa] i els seus receptors : implicació en la infecció perinatal i en el desencadenament del part / Sàrries i Gené, Carme ; Pintos Morell, Guillem, dir. (Universitat Autònoma de Barcelona. Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina)
Aquest treball aprofundeix en el coneixement de les funcions que el sistema TNF-TNFR desenvolupa en la unitat materno-fetal en el part normal i en el part amb risc o signes d'infecció. D'una banda s'analitzen els perfils d'expressió dels receptors del TNF-a p55 i p75 presents en els diferents compartiments de la unitat materno-fetal i de l'altre es determina la concentració plasmàtica del TNF-a i també dels dos receptors en nounats amb signes d'infecció, analitzant si la determinació d'aquestes citocines pot ser utilitzada com a marcador de la sèpsia neonatal precoç i factor pronòstic de l'evolució clínica. [...]
The aim of this study was to analyze the role of the TNF-TNFR system in the materno-fetal unit during both, the normal labor and the labor with risk or signs of infection. The first objective was to analyze TNFR-p55 and p75 expression profiles in the different materno-fetal compartments. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2004
2 documents

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