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Cognitive Neuropsychology
|
May 10, 2018
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III
James Blundell, Steven Frisson, Anupam Chakrapani, et al.
Human Mutation
|
June 26, 2010
Design and validation of a metabolic disorder resequencing microarray (BRUM1)
Christopher K Bruce, Matthew Smith, Fatima Rahman, et al.
Archives of Disease in Childhood
|
May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Arunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.
Orphanet Journal of Rare Diseases
|
April 18, 2015
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Marieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, et al.
Journal of Inherited Metabolic Disease
|
February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Martina Huemer, Daria Diodato, Diego Martinelli, et al.
Page
of 2
Search research articles
Search
Showing results (11-20 of 15) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 15 results.
Cognitive Neuropsychology
|
May 10, 2018
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III
James Blundell, Steven Frisson, Anupam Chakrapani, et al.
Human Mutation
|
June 26, 2010
Design and validation of a metabolic disorder resequencing microarray (BRUM1)
Christopher K Bruce, Matthew Smith, Fatima Rahman, et al.
Archives of Disease in Childhood
|
May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
Arunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.
Orphanet Journal of Rare Diseases
|
April 18, 2015
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
Marieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, et al.
Journal of Inherited Metabolic Disease
|
February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Martina Huemer, Daria Diodato, Diego Martinelli, et al.
Page
of 2