9 Einträge gefunden

1. Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

   1. Giugliani, Roberto
   2. Muschol, Nicole
   3. Keenan, Hillary A
   4. Dant, Mark
   5. Muenzer, Joseph

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

   1. van der Lee, Johanna H
   2. Morton, Jonathan
   3. Adams, Heather R
   4. Clarke, Lorne
   5. Eisengart, Julie B
   6. Escolar, Maria L
   7. Giugliani, Roberto

   2020 - Forschungsinformationssystem des UKE
3. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

   1. Wasserstein, Melissa
   2. Dionisi-Vici, Carlo
   3. Giugliani, Roberto
   4. Hwu, Wuh-Liang
   5. Lidove, Olivier
   6. Lukacs, Zoltan
   7. Mengel, Eugen

   2019 - Forschungsinformationssystem des UKE
4. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

   1. McGovern, Margaret M
   2. Dionisi-Vici, Carlo
   3. Giugliani, Roberto
   4. Hwu, Paul
   5. Lidove, Olivier
   6. Lukacs, Zoltan
   7. Eugen Mengel, Karl

   2017 - Forschungsinformationssystem des UKE
5. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

   1. Fietz, Michael
   2. AlSayed, Moeenaldeen
   3. Burke, Derek
   4. Cohen-Pfeffer, Jessica
   5. Cooper, Jonathan D
   6. Dvořáková, Lenka
   7. Giugliani, Roberto

   2016 - Forschungsinformationssystem des UKE
6. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

   1. Hendriksz, Christian J
   2. Giugliani, Roberto
   3. Harmatz, Paul
   4. Mengel, Eugen
   5. Guffon, Nathalie
   6. Valayannopoulos, Vassili
   7. Parini, Rossella

   2015 - Forschungsinformationssystem des UKE
7. Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series

   1. Lampe, Christina
   2. Bosserhoff, Ann-Kathrin
   3. Burton, Barbara K
   4. Giugliani, Roberto
   5. de Souza, Carolina F
   6. Bittar, Camila
   7. Muschol, Nicole

   2014 - Forschungsinformationssystem des UKE
8. Diagnosing mucopolysaccharidosis IVA

   1. Wood, Timothy C
   2. Harvey, Katie
   3. Beck, Michael
   4. Burin, Maira Graeff
   5. Chien, Yin-Hsiu
   6. Church, Heather J
   7. D'Almeida, Vânia

   2013 - Forschungsinformationssystem des UKE
9. The effect of idursulfase on growth in patients with Hunter Syndrome: data from the Hunter Outcome Survey (HOS)

   1. Jones, Simon A
   2. Parini, Rossella
   3. Harmatz, Paul
   4. Giugliani, Roberto
   5. Fang, Juanzhi
   6. Mendelsohn, Nancy J

   2013 - Forschungsinformationssystem des UKE