Recognizable phenotypes in CDG

Journal of Inherited Metabolic Disease

Volumn 41, Issue 3, 2018, Pages 541-553

  Ferreira, Carlos R ^a,b   Altassan, Ruqaia ^c,d   Marques Da Silva, Dorinda ^e,f   Francisco, Rita ^e,f   Jaeken, Jaak ^c,d   Morava, Eva ^c,d,g  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d UNIVERSITY OF LEUVEN   (Belgium)

^e UNIVERSIDADE NOVA DE LISBOA   (Portugal)

^f Portuguese Association for Congenital Disorders of Glycosylation (CDG)   (Portugal)

^g MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MANNOSE PHOSPHATE ISOMERASE;

ALG11 GENE; ALG12 GENE; ALG14 GENE; ALG2 GENE; ALG3 GENE; ALG6 GENE; ALG8 GENE; ALG9 GENE; ATP6AP1 GENE; ATP6AP2 GENE; ATP6V0A2 GENE; ATP6V1A GENE; ATP6V1E1 GENE; BILE DUCT MALFORMATION; BODY FAT DISTRIBUTION; CCDC115 GENE; COG1 GENE; COG7 GENE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL HEART MALFORMATION; DOLK GENE; DPAGT1 GENE; DPM1 GENE; DPM2 GENE; DPM3 GENE; FACIAL RECOGNITION; FACIES; GENE; GFPT1 GENE; GMPPA GENE; HUMAN; MAN1B1 GENE; MGAT2 GENE; MPI GENE; PGM1 GENE; PHENOTYPE; PIGA GENE; PIGL GENE; PIGM GENE; PMM2 GENE; REVIEW; RFT1 GENE; SLC35C1 GENE; SLC39A8 GENE; SRD5A3 GENE; STRABISMUS; TMEM165 GENE; TMEM199 GENE; UROGENITAL TRACT MALFORMATION; AUTOMATED PATTERN RECOGNITION; DIFFERENTIAL DIAGNOSIS; GENETICS; GENOMICS; GLYCOBIOLOGY; METABOLOMICS; PATHOLOGY; PATTERN RECOGNITION; PROCEDURES;

CONGENITAL DISORDERS OF GLYCOSYLATION; DIAGNOSIS, DIFFERENTIAL; GENOMICS; GLYCOMICS; HUMANS; METABOLOMICS; PATTERN RECOGNITION, AUTOMATED; PATTERN RECOGNITION, VISUAL; PHENOTYPE;

EID: 85045261142     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-018-0156-5     Document Type: Review

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