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Alexander Broomfield

Showing results (11-20 of 23) with videos related to

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Acta Paediatrica (Oslo, Norway : 1992)|September 23, 2018
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeRossella Parini, Alexander Broomfield, Maureen A Cleary, et al.
Journal of Inherited Metabolic Disease|October 30, 2014
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of diseaseAlexander Broomfield, Mary G Sweeney, Cathy E Woodward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2022
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis reportPriya S Kishnani, David Kronn, Anaïs Brassier, et al.
The Journal of Pediatrics|May 31, 2025
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase AlfaDavid Kronn, James Davison, Alexander Broomfield, et al.
Orphanet Journal of Rare Diseases|May 22, 2021
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman diseaseJane E Potter, Gemma Petts, Arunabha Ghosh, et al.
American Journal of Human Genetics|December 24, 2019
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I DeficiencyCharlotte L Alston, Mike T Veling, Juliana Heidler, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, 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.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Acta Paediatrica (Oslo, Norway : 1992)|September 23, 2018
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcomeRossella Parini, Alexander Broomfield, Maureen A Cleary, et al.
Journal of Inherited Metabolic Disease|October 30, 2014
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of diseaseAlexander Broomfield, Mary G Sweeney, Cathy E Woodward, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2022
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis reportPriya S Kishnani, David Kronn, Anaïs Brassier, et al.
The Journal of Pediatrics|May 31, 2025
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase AlfaDavid Kronn, James Davison, Alexander Broomfield, et al.
Orphanet Journal of Rare Diseases|May 22, 2021
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman diseaseJane E Potter, Gemma Petts, Arunabha Ghosh, et al.
American Journal of Human Genetics|December 24, 2019
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I DeficiencyCharlotte L Alston, Mike T Veling, Juliana Heidler, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, 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.
Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.
Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.
Pageof 3