Congenital disorders of glycosylation (CDG): Quo vadis?

European Journal of Medical Genetics

Volumn 61, Issue 11, 2018, Pages 643-663

  Péanne, Romain ^a,j   de Lonlay, Pascale ^b   Foulquier, François ^c,k   Kornak, Uwe ^d   Lefeber, Dirk J ^e   Morava, Eva ^a   Pérez, Belén ^f   Seta, Nathalie ^g   Thiel, Christian ^h   Van Schaftingen, Emile ⁱ   Matthijs, Gert ^a,j   Jaeken, Jaak ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c UNIV LILLE   (France)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f CSIC   (Spain)

^g BICHAT HOSPITAL   (France)

^h UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

ⁱ DE DUVE INSTITUTE   (Belgium)

^j LIA GLYCOLAB4CDG France Belgium (International Associated Laboratory "Laboratory for the Research on Congenital Disorders of Glycosylation from cellular mechanisms to cure )   (France)

^k LIA GLYCOLAB4CDG France Belgium (International Associated Laboratory Laboratory for the Research on Congenital Disorders of Glycosylation from cellular mechanisms to cure   (Belgium)

more..

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; MUTASE; PHOSPHOMANNOMUTASE 2, HUMAN;

ALLELE; CONGENITAL DISORDER OF GLYCOSYLATION; EPIGENETICS; FAMILY; GENETIC HETEROGENEITY; HUMAN; INFORMATION DISSEMINATION; MOLECULAR DIAGNOSIS; PATHOPHYSIOLOGY; PHENOTYPE; QUALITY OF LIFE; REVIEW; WHOLE GENOME SEQUENCING; GENETICS; GLYCOSYLATION; MUTATION; PATHOLOGY; QUESTIONNAIRE;

CONGENITAL DISORDERS OF GLYCOSYLATION; GLYCOSYLATION; HUMANS; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); QUALITY OF LIFE; SURVEYS AND QUESTIONNAIRES;

EID: 85042309382     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2017.10.012     Document Type: Review

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