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Journal of Inherited Metabolic Disease
|
September 22, 2010
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
Belén Pérez-Dueñas, Claudio Toma, Aida Ormazábal, et al.
Pediatric Neurology
|
May 13, 2009
Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I
Alfredo Cerisola, Jaume Campistol, Belén Pérez-Dueñas, et al.
Pediatric Radiology
|
August 21, 2007
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
Mercedes Serrano, Isabel Lizarraga, Jochen Reiss, et al.
Neurogenetics
|
October 28, 2019
Infectious stress triggers a POLG-related mitochondrial disease
Paula Gaudó, Sonia Emperador, Nuria Garrido-Pérez, et al.
Molecular Genetics and Metabolism
|
August 19, 2007
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis
Marta Ribasés, Mercedes Serrano, Emilio Fernández-Alvarez, et al.
Nature Protocols
|
October 20, 2017
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
International Journal of Molecular Sciences
|
January 18, 2020
Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 27, 2009
Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging
Belén Pérez-Dueñas, Alberto De La Osa, Antoni Capdevila, et al.
Molecular Genetics and Metabolism
|
February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients
Aida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2020
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform
Glynis Klinke, Sylvia Richter, Péter Monostori, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 62) with videos related to
Sort By:
Page
of 7
Journal of Inherited Metabolic Disease
|
September 22, 2010
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
Belén Pérez-Dueñas, Claudio Toma, Aida Ormazábal, et al.
Pediatric Neurology
|
May 13, 2009
Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I
Alfredo Cerisola, Jaume Campistol, Belén Pérez-Dueñas, et al.
Pediatric Radiology
|
August 21, 2007
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency
Mercedes Serrano, Isabel Lizarraga, Jochen Reiss, et al.
Neurogenetics
|
October 28, 2019
Infectious stress triggers a POLG-related mitochondrial disease
Paula Gaudó, Sonia Emperador, Nuria Garrido-Pérez, et al.
Molecular Genetics and Metabolism
|
August 19, 2007
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis
Marta Ribasés, Mercedes Serrano, Emilio Fernández-Alvarez, et al.
Nature Protocols
|
October 20, 2017
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC
Marta Batllori, Marta Molero-Luis, Aida Ormazabal, et al.
International Journal of Molecular Sciences
|
January 18, 2020
Comprehensive Analysis of GABA<sub>A</sub>-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease
Alfonso Oyarzabal, Clara Xiol, Alba Aina Castells, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
January 27, 2009
Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging
Belén Pérez-Dueñas, Alberto De La Osa, Antoni Capdevila, et al.
Molecular Genetics and Metabolism
|
February 26, 2008
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients
Aida Ormazabal, Marcus Oppenheim, Mercedes Serrano, et al.
Journal of Inherited Metabolic Disease
|
January 14, 2020
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform
Glynis Klinke, Sylvia Richter, Péter Monostori, et al.
Page
of 7