Perinatal and early infantile symptoms in congenital disorders of glycosylation

American Journal of Medical Genetics, Part A

Volumn 161, Issue 3, 2013, Pages 578-584

  Funke, Simone ^a   Gardeitchik, Thatjana ^b   Kouwenberg, Dorus ^b   Mohamed, Miski ^b   Wortmann, Saskia B ^b   Korsch, Eckhard ^c   Adamowicz, Maciej ^d   Al Gazali, Lihadh ^e   Wevers, Ron A ^b   Horvath, Adrienne ^f   Lefeber, Dirk J ^b   Morava, Éva ^b  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Pediatric Hospital Amsterdamerstrasse   (Germany)

^d CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^e UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^f SEMMELWEIS UNIVERSITY   (Hungary)

Author keywords

CDG; Coagulation; Cutis laxa; Glycosylation; Malformations; Mortality; Neonatal; Small for gestational age

Indexed keywords

ARTICLE; BLEEDING; BODY DYSMORPHIC DISORDER; BODY FAT DISTRIBUTION; CARDIOMYOPATHY; CLINICAL EVALUATION; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE ASSOCIATION; EARLY INTERVENTION; FAILURE TO THRIVE; FEMALE; GROWTH RETARDATION; HUMAN; HYPOTHYROIDISM; INFANT; INFANT MORTALITY; INFANTILE SPASM; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; NEWBORN; NEWBORN SCREENING; PREGNANCY COMPLICATION; PRIORITY JOURNAL; SMALL FOR DATE INFANT; THROMBOSIS;

ABNORMALITIES, MULTIPLE; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS; SEIZURES;

EID: 84874218722     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35702     Document Type: Article

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