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Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Pubmed ID: 
24599607
Year: 
2014
Month: 
MAR
Citation: 
Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO, Gruenert SC, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B, Dionisi-Vici C. Clinical presentation and outcome in a series of 88 patients with the cblC defect. JOURNAL OF INHERITED METABOLIC DISEASE (2014) PubMed