A NOVEL NON-NEUROLOGICAL CONGENITAL DISORDER OF GLYCOSYLATION CAUSED BY MUTATIONS IN THE PHOSPHOGLUCOMUTASE 1 GENE

被引:0
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作者
Perez, B. [1 ]
Medrano, C. [1 ]
Ecay, M. J. [1 ]
Ruiz Sala, P. [1 ]
Martinez-Pardo, M. [2 ]
Ugarte, M. [1 ]
Perez-Cerda, C. [1 ]
机构
[1] Univ Autonoma Madrid, CIBERER, CBM, CEDEM, Madrid, Spain
[2] U Enf Metab S Pediatr H Ramon & Cajal, Madrid, Spain
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R5 [内科学];
学科分类号
1002 ; 100201 ;
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页码:S111 / S111
页数:1
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