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RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature. [electronic resource] by
- Phadke, Rahul
- Hedberg-Oldfors, Carola
- Scalco, Renata S
- Lowe, David M
- Ashworth, Michael
- Novelli, Marco
- Vara, Roshni
- Merwick, Aine
- Amer, Halima
- Sofat, Reecha
- Sugarman, Max
- Jovanovic, Ana
- Roberts, Mark
- Nakou, Vasiliki
- King, Andrew
- Bodi, Istvan
- Jungbluth, Heinz
- Oldfors, Anders
- Murphy, Elaine
Producer: 20211005
In:
Journal of inherited metabolic disease vol. 43
Availability: No items available.
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Clinical features of childhood granulomatosis with polyangiitis (wegener's granulomatosis). [electronic resource] by
- Bohm, Marek
- Gonzalez Fernandez, Maria Isabel
- Ozen, Seza
- Pistorio, Angela
- Dolezalova, Pavla
- Brogan, Paul
- Barbano, Giancarlo
- Sengler, Claudia
- Klein-Gitelman, Marisa
- Quartier, Pierre
- Fasth, Anders
- Herlin, Troels
- Terreri, Maria Teresa R A
- Nielsen, Susan
- van Rossum, Marion A J
- Avcin, Tadej
- Castell, Esteban Rodolfo
- Foeldvari, Ivan
- Foell, Dirk
- Kondi, Anuela
- Koné-Paut, Isabelle
- Kuester, Rolf-Michael
- Michels, Hartmut
- Wulffraat, Nico
- Amer, Halima Ben
- Malattia, Clara
- Martini, Alberto
- Ruperto, Nicolino
Producer: 20151116
In:
Pediatric rheumatology online journal vol. 12
Availability: No items available.
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