A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases

Journal of Medical Genetics

Volumn 38, Issue 1, 2001, Pages 14-19

  De Lonlay, P ^a   Seta, N ^b   Barrot, S ^b   Chabrol, B ^c   Drouin, V ^d   Gabriel, B M ^e   Journel, H ^f   Kretz, M ^g   Laurent, J ^a   Le Merrer, M ^a   Leroy, A ^h   Pedespan, D ⁱ   Sarda, P ^j   Villeneuve, N ^k   Schmitz, J ^a   Van Schaftingen, E ^l   Matthijs, G ^l   Jaeken, J ^l   Korner, C ^m   Munnich, A ^a   Saudubray, J M ^a   Cormier Daire, V ^a   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b BICHAT HOSPITAL   (France)

^c Service de Pédiatrie Multidisciplinaire   (France)

^d Département de Génétique   (France)

^e Service de Néonatologie   (France)

^f U de Génétique   (France)

^g groupe hospitalier privé du centre Alsace   (France)

^h Service de Pédiatrie   (France)

ⁱ Service de Pédiatrie   (France)

^j Maladies Rares et Médecine Personnalisée   (France)

^k Service de neurologie   (France)

^l University Hospital Gasthuisberg   (France)

^m UNIVERSITY OF GÖTTINGEN   (Germany)

more..

Author keywords

CDG; Dolichyl phosphate glucose; Mannose 9 N acetylglycosamine 2 glucosyltransferase; Phosphomannomutase; Phosphomannose isomerase

Indexed keywords

ALPHA 1 ANTITRYPSIN; DOLICHOL PHOSPHATE MANNOSE; HAPTOGLOBIN; MANNOSE; MANNOSE PHOSPHATE ISOMERASE; N ACETYLGLUCOSAMINYLTRANSFERASE; OROSOMUCOID; PHOSPHOMANNOMUTASE; TRANSFERRIN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; EARLY DIAGNOSIS; FEMALE; GENETIC VARIABILITY; GLYCOSYLATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; ISOELECTRIC FOCUSING; MALE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SYNDROME DELINEATION; TRANSFERRIN BLOOD LEVEL;

EID: 0035136834     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.1.14     Document Type: Article

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