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                             8 results found
no title author magazine year volume issue page(s) type
1 Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity Lollert, André

130 2 p. 140-148
article
2 Advances in glycosaminoglycan detection Khan, Shaukat A.

130 2 p. 101-109
article
3 Cardiac rhythm abnormalities - An underestimated cardiovascular risk in adult patients with Mucopolysaccharidoses Ayuna, Ahmed

130 2 p. 133-139
article
4 Cover 2 / Ed. Board
130 2 p. IFC
article
5 Development of a neurologic severity scale for Aicardi Goutières Syndrome Adang, Laura A.

130 2 p. 153-160
article
6 α-Mannosidosis - An underdiagnosed lysosomal storage disease in individuals with an ‘MPS-like’ phenotype Wiesinger, Thomas

130 2 p. 149-152
article
7 Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders Pontoizeau, Clément

130 2 p. 110-117
article
8 Regional metabolic signatures in the Ndufs4(KO) mouse brain implicate defective glutamate/α-ketoglutarate metabolism in mitochondrial disease Johnson, Simon C.

130 2 p. 118-132
article
                             8 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands