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Volumn 534, Issue 2, 2014, Pages 345-351

ALG1-CDG: A new case with early fatal outcome

Author keywords

ALG1 pseudogenes; Congenital disorder of glycosylation type Ik; Hypoglycosylation; Hypoproteinemia; Seizures

Indexed keywords

APNEA; ARTICLE; ASCITES; BLOOD CLOTTING DISORDER; CARDIOVASCULAR DISEASE; COAGULATION ANOMALY; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONTROLLED STUDY; DIARRHEA; FATALITY; FEEDING DIFFICULTY; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; HYPOPROTEINEMIA; MISSENSE MUTATION; MUSCLE HYPERTONIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEIZURE;

EID: 84890435880     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.10.013     Document Type: Article
Times cited : (30)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.