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Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency. [electronic resource] by
- Ostergaard, Elsebet
- Duno, Morten
- Møller, Lisbeth Birk
- Kalkanoglu-Sivri, H Serap
- Dursun, Ali
- Aliefendioglu, Didem
- Leth, Helle
- Dahl, Marianne
- Christensen, Ernst
- Wibrand, Flemming
Producer: 20130225
In:
JIMD reports vol. 9
Availability: No items available.
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12.
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Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial. [electronic resource] by
- Muntau, Ania C
- Burlina, Alberto
- Eyskens, François
- Freisinger, Peter
- De Laet, Corinne
- Leuzzi, Vincenzo
- Rutsch, Frank
- Sivri, H Serap
- Vijay, Suresh
- Bal, Milva Orquidea
- Gramer, Gwendolyn
- Pazdírková, Renata
- Cleary, Maureen
- Lotz-Havla, Amelie S
- Munafo, Alain
- Mould, Diane R
- Moreau-Stucker, Flavie
- Rogoff, Daniela
Producer: 20180228
In:
Orphanet journal of rare diseases vol. 12
Availability: No items available.
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