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Orphanet Journal of Rare Diseases
|
February 15, 2017
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia
S 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 spectrum
S Lühl, H Bode, W Schlötzer, et al.
BMC Pediatrics
|
November 12, 2020
Citrin deficiency mimicking mitochondrial depletion syndrome
S C Grünert, A Schumann, P Freisinger, et al.
Journal of Inherited Metabolic Disease
|
December 3, 2011
Propionic acidemia: neonatal versus selective metabolic screening
S C Grünert, S Müllerleile, L de Silva, et al.
Journal of Inherited Metabolic Disease
|
October 29, 2011
Mutation analysis in 54 propionic acidemia patients
J 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 practice
S Adam, R Akroyd, S Bernabei, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 6) with videos related to
Sort By:
Page
of 1
Orphanet Journal of Rare Diseases
|
February 15, 2017
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia
S 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 spectrum
S Lühl, H Bode, W Schlötzer, et al.
BMC Pediatrics
|
November 12, 2020
Citrin deficiency mimicking mitochondrial depletion syndrome
S C Grünert, A Schumann, P Freisinger, et al.
Journal of Inherited Metabolic Disease
|
December 3, 2011
Propionic acidemia: neonatal versus selective metabolic screening
S C Grünert, S Müllerleile, L de Silva, et al.
Journal of Inherited Metabolic Disease
|
October 29, 2011
Mutation analysis in 54 propionic acidemia patients
J 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 practice
S Adam, R Akroyd, S Bernabei, et al.
Page
of 1