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S C Grünert

Showing results (1-10 of 6) with videos related to

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Orphanet Journal of Rare Diseases|February 15, 2017
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemiaS C Grünert, I Bodi, K E Odening
Orphanet Journal of Rare Diseases|October 23, 2016
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrumS Lühl, H Bode, W Schlötzer, et al.
BMC Pediatrics|November 12, 2020
Citrin deficiency mimicking mitochondrial depletion syndromeS C Grünert, A Schumann, P Freisinger, et al.
Journal of Inherited Metabolic Disease|December 3, 2011
Propionic acidemia: neonatal versus selective metabolic screeningS C Grünert, S Müllerleile, L de Silva, et al.
Journal of Inherited Metabolic Disease|October 29, 2011
Mutation analysis in 54 propionic acidemia patientsJ P Kraus, E Spector, S Venezia, et al.
Molecular Genetics and Metabolism|April 16, 2015
How strict is galactose restriction in adults with galactosaemia? International practiceS Adam, R Akroyd, S Bernabei, et al.
Pageof 1

Showing results (1-10 of 6) with videos related to

Sort By:
Pageof 1
Orphanet Journal of Rare Diseases|February 15, 2017
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemiaS C Grünert, I Bodi, K E Odening
Orphanet Journal of Rare Diseases|October 23, 2016
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrumS Lühl, H Bode, W Schlötzer, et al.
BMC Pediatrics|November 12, 2020
Citrin deficiency mimicking mitochondrial depletion syndromeS C Grünert, A Schumann, P Freisinger, et al.
Journal of Inherited Metabolic Disease|December 3, 2011
Propionic acidemia: neonatal versus selective metabolic screeningS C Grünert, S Müllerleile, L de Silva, et al.
Journal of Inherited Metabolic Disease|October 29, 2011
Mutation analysis in 54 propionic acidemia patientsJ P Kraus, E Spector, S Venezia, et al.
Molecular Genetics and Metabolism|April 16, 2015
How strict is galactose restriction in adults with galactosaemia? International practiceS Adam, R Akroyd, S Bernabei, et al.
Pageof 1