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Medientyp
- Text 9
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Autor/in
- Giugliani, Roberto
- Harmatz, Paul 4
- Lukacs, Zoltan 3
- Dionisi-Vici, Carlo 2
- Fietz, Michael 2
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Sprache
- Englisch 9
9 Einträge gefunden
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Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I
2021 - Forschungsinformationssystem des UKE - frei zugänglich -
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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
- McGovern, Margaret M
- Dionisi-Vici, Carlo
- Giugliani, Roberto
- Hwu, Paul
- Lidove, Olivier
- Lukacs, Zoltan
- Eugen Mengel, Karl
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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
- Fietz, Michael
- AlSayed, Moeenaldeen
- Burke, Derek
- Cohen-Pfeffer, Jessica
- Cooper, Jonathan D
- Dvořáková, Lenka
- Giugliani, Roberto
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Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
- Lampe, Christina
- Bosserhoff, Ann-Kathrin
- Burton, Barbara K
- Giugliani, Roberto
- de Souza, Carolina F
- Bittar, Camila
- Muschol, Nicole
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Diagnosing mucopolysaccharidosis IVA
- Wood, Timothy C
- Harvey, Katie
- Beck, Michael
- Burin, Maira Graeff
- Chien, Yin-Hsiu
- Church, Heather J
- D'Almeida, Vânia
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