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Volumn 22, Issue , 2015, Pages 95-98

Girls with seizures due to the c.320A>G variant in ALG13 do not show abnormal glycosylation pattern on standard testing

Author keywords

Feeding problem; Fluticasone propionate; Infantile spasm; Intellectual disability; Ketogenic diet

Indexed keywords


EID: 84993885636     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_416     Document Type: Chapter
Times cited : (28)

References (8)
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    • Bissar-Tadmouri N, Donahue WL, Al-Gazali L, Nelson SF, Bayrak-Toydemir P, Kantarci S (2014) X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. Am J Med Genet A 164A:164–169
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  • 3
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    • Diagnostic exome sequencing in persons with severe intellectual disability
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  • 4
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  • 5
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    • Solving glycosylation disorders: Fundamental approaches reveal complicated pathways
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    • The genetic landscape of infantile spasms
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  • 8
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    • Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
    • Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21:4151–4161
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.