Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Katja, Kloth, Inga, Vater, Ramona, Lindschau, Rau, Isabella, Almuth, Caliebe, Maria, Muschol Nicole
Published in Molecular genetics and metabolism reports (01.12.2020)
Published in Molecular genetics and metabolism reports (01.12.2020)
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Journal Article
Wolman disease presenting with secondary hemophagocytic lymphohistiocytosis
Lindschau, Ramona, Aries, Charlotte, Rudolph, Cornelia, Muschol, Nicole
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article