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Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations. [electronic resource] by
- Wraith, James E
- Sedel, Frédéric
- Pineda, Mercèdes
- Wijburg, Frits A
- Hendriksz, Christian J
- Fahey, Michael
- Walterfang, Mark
- Patterson, Marc C
- Chadha-Boreham, Harbajan
- Kolb, Stefan A
Producer: 20140909
In:
Journal of inherited metabolic disease vol. 37
Availability: No items available.
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19.
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Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study. [electronic resource] by
- Giugliani, Roberto
- Lampe, Christina
- Guffon, Nathalie
- Ketteridge, David
- Leão-Teles, Elisa
- Wraith, James E
- Jones, Simon A
- Piscia-Nichols, Cheri
- Lin, Ping
- Quartel, Adrian
- Harmatz, Paul
Producer: 20150331
In:
American journal of medical genetics. Part A vol. 164A
Availability: No items available.
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The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. [electronic resource] by
- Suormala, Terttu
- Baumgartner, Matthias R
- Coelho, David
- Zavadakova, Petra
- Kozich, Viktor
- Koch, Hans Georg
- Berghaüser, Martin
- Wraith, James E
- Burlina, Alberto
- Sewell, Adrian
- Herwig, Jürgen
- Fowler, Brian
Producer: 20041124
In:
The Journal of biological chemistry vol. 279
Availability: No items available.
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