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Stephanie Grunewald

Showing results (11-20 of 59) with videos related to

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Human Molecular Genetics|March 5, 2002
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiencyVibeke Westphal, Susanne Kjaergaard, Els Schollen, et al.
Molecular Genetics and Metabolism Reports|June 30, 2026
Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudyEugen Mengel, Laila Arash-Kaps, Stephanie Grunewald, et al.
Neuromuscular Disorders : NMD|January 17, 2021
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defectsAlberto A Zambon, Alexandra Lemaigre, Rahul Phadke, et al.
JIMD Reports|March 14, 2022
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disordersMildrid Yeo, Preeya Rehsi, Megan Dorman, et al.
JIMD Reports|September 13, 2023
Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centreMildrid Yeo, Preeya Rehsi, Megan Dorman, et al.
Pediatric Neurology|September 13, 2011
Clinical neuroimaging features and outcome in molybdenum cofactor deficiencyKayal Vijayakumar, Rox Gunny, Stephanie Grunewald, et al.
Journal of Proteome Research|June 8, 2013
A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylationWendy E Heywood, Philippa Mills, Stephanie Grunewald, et al.
JIMD Reports|July 5, 2023
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defectsAbigail Whitehouse, Preeya Rehsi, Louise Hartley, et al.
Journal of Inherited Metabolic Disease|November 17, 2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2Emma Glamuzina, Ruth Brown, Kieran Hogarth, et al.
Pediatric Nephrology (Berlin, Germany)|February 25, 2023
Transplantation in paediatric patients with MMA requires multidisciplinary approach for achievement of good clinical outcomesAlicia Paessler, Miriam Cortes-Cerisuelo, Wayel Jassem, et al.
Pageof 6

Showing results (11-20 of 59) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|March 5, 2002
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiencyVibeke Westphal, Susanne Kjaergaard, Els Schollen, et al.
Molecular Genetics and Metabolism Reports|June 30, 2026
Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudyEugen Mengel, Laila Arash-Kaps, Stephanie Grunewald, et al.
Neuromuscular Disorders : NMD|January 17, 2021
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defectsAlberto A Zambon, Alexandra Lemaigre, Rahul Phadke, et al.
JIMD Reports|March 14, 2022
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disordersMildrid Yeo, Preeya Rehsi, Megan Dorman, et al.
JIMD Reports|September 13, 2023
Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centreMildrid Yeo, Preeya Rehsi, Megan Dorman, et al.
Pediatric Neurology|September 13, 2011
Clinical neuroimaging features and outcome in molybdenum cofactor deficiencyKayal Vijayakumar, Rox Gunny, Stephanie Grunewald, et al.
Journal of Proteome Research|June 8, 2013
A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylationWendy E Heywood, Philippa Mills, Stephanie Grunewald, et al.
JIMD Reports|July 5, 2023
Prolonged respiratory failure responds to conventional therapy in isolated homocysteine remethylation defectsAbigail Whitehouse, Preeya Rehsi, Louise Hartley, et al.
Journal of Inherited Metabolic Disease|November 17, 2011
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2Emma Glamuzina, Ruth Brown, Kieran Hogarth, et al.
Pediatric Nephrology (Berlin, Germany)|February 25, 2023
Transplantation in paediatric patients with MMA requires multidisciplinary approach for achievement of good clinical outcomesAlicia Paessler, Miriam Cortes-Cerisuelo, Wayel Jassem, et al.
Pageof 6