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- Journal Article
- A2
- open access
Placental findings in lysosomal storage disease diagnosis : a case report of galactosialidosis
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- Journal Article
- A1
- open access
Dietary practices in propionic acidemia : a European survey
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Cognitive functioning and psychiatric disorders in children with a metabolic disease
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Mitochondrial mosaics in the liver of patients with Pearson and Alpers-Huttenlocher syndromes
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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12