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Chris Hendriksz

Showing results (11-20 of 15) with videos related to

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Cognitive Neuropsychology|May 10, 2018
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type IIIJames 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 sequencingArunabha 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 documentMarieke 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 registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.
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Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 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 IIIJames 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 sequencingArunabha 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 documentMarieke 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 registryMartina Huemer, Daria Diodato, Diego Martinelli, et al.
Pageof 2