Key features and clinical variability of COG6-CDG

Molecular Genetics and Metabolism

Volumn 116, Issue 3, 2015, Pages 163-170

  Rymen, Daisy ^a,d   Winter, Julia ^b   Van Hasselt, Peter M ^c   Jaeken, Jaak ^d   Kasapkara, Cigdem ^e   Gokçay, Gulden ^f   Haijes, Hanneke ^c   Goyens, Philippe ^g   Tokatli, Aysegul ^h   Thiel, Christian ⁱ   Bartsch, Oliver ^j   Hecht, Jochen ^k   Krawitz, Peter ^k   Prinsen, Hubertus C M T ^l   Mildenberger, Eva ^b   Matthijs, Gert ^a   Kornak, Uwe ^k,m  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e Dr Sami Ulus Maternity and Children Training and Research Hospital   (Turkey)

^f ISTANBUL UNIVERSITY   (Turkey)

^g HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^h HACETTEPE UNIVERSITY   (Turkey)

ⁱ Section of Neuropediatrics Center for Child and Adolescent Medicine   (Germany)

^j JOHANNES GUTENBERG UNIVERSITY   (Germany)

^k CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^l UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^m MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

more..

Author keywords

CDG; COG6; Congenital disorder of glycosylation; Conserved oligomeric Golgi complex

Indexed keywords

FRESH FROZEN PLASMA; GANCICLOVIR; VITAMIN K GROUP; COG6 PROTEIN, HUMAN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ADULT; ANEMIA; ANHIDROSIS; ARTICLE; CEREBELLUM ATROPHY; CHILD; CHOLESTASIS; CHRONIC DIARRHEA; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CORPUS CALLOSUM AGENESIS; CYTOMEGALOVIRUS INFECTION; DISEASE SEVERITY; DISSEMINATED INTRAVASCULAR CLOTTING; ESOPHAGUS VARICES; FEMALE; GENOTYPE PHENOTYPE CORRELATION; GOLGI COMPLEX; HEPATOSPLENOMEGALY; HUMAN; HYDROCEPHALUS; HYPERKERATOSIS; HYPERTHERMIA; INFANT; INTESTINE ISCHEMIA; LEUKOCYTOSIS; LIVER CIRRHOSIS; LIVER FAILURE; LOSS OF FUNCTION MUTATION; MALE; PANCYTOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; SCHOOL CHILD; SPLENOMEGALY; THROMBOCYTOPENIA; YOUNG ADULT; ADOLESCENT; CASE REPORT; COMPLICATION; GENETIC ASSOCIATION STUDY; GENETICS; GLYCOSYLATION; HIGH THROUGHPUT SEQUENCING; MICROCEPHALY; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; ADOLESCENT; CHILD; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; GENETIC ASSOCIATION STUDIES; GLYCOSYLATION; GOLGI APPARATUS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 84948716414     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2015.07.003     Document Type: Article

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