ALG13-CDG with infantile spasms in a male patient due to a de novo ALG13 gene mutation

JIMD Reports

Volumn 40, Issue , 2018, Pages 11-16

  Galama, Wienke H ^a   Verhaagen van den Akker, Sandra L J ^a   Lefeber, Dirk J ^b   Feenstra, Ilse ^b   Verrips, Aad ^a  

^a CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

ALG13; ALG13 CDG; Congenital disorders of glycosylation; De novo mutation; Infantile spasms

Indexed keywords

EID: 85049495393     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2017_53     Document Type: Chapter

References (19)

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