ALG8-CDG: Novel patients and review of the literature

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Höck, Michaela ^a   Wegleiter, Karina ^a   Ralser, Elisabeth ^a   Kiechl Kohlendorfer, Ursula ^a   Scholl Bürgi, Sabine ^a   Fauth, Christine ^a   Steichen, Elisabeth ^a   Pichler, Karin ^a   Lefeber, Dirk J ^b   Matthjis, Gert ^c   Keldermans, Liesbeth ^c   Maurer, Kathrin ^a   Zschocke, Johannes ^a   Karall, Daniela ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Cataract; Coagulopathy; Congenital disorders of glycosylation; Gastrointestinal symptoms; Hydrops fetalis; Isoelectric focusing of transferrin

Indexed keywords

TRANSFERRIN; ALG8 PROTEIN, HUMAN; GLUCOSYLTRANSFERASE;

ALG8 CONGENITAL DISORDER OF GLYCOSYLATION; ALG8 GENE; ATAXIA; BIRTH WEIGHT; BLOOD CLOTTING DISORDER; BRACHYDACTYLY; BRAIN MALFORMATION; CAMPTODACTYLY; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; EAR MALFORMATION; EARLY DIAGNOSIS; EDEMA; FEMALE; FETUS HYDROPS; GASTROINTESTINAL SYMPTOM; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERTELORISM; HYPERTRANSAMINASEMIA; INFANT; MACROGLOSSIA; MALE; MENTAL DEFICIENCY; MORTALITY; MUSCLE HYPOTONIA; PES EQUINOVARUS; POINT MUTATION; PREMATURITY; PRENATAL DISORDER; PROGNOSIS; REVIEW; SEIZURE; SKIN DISEASE; SMALL FOR DATE INFANT; SYMPTOMATOLOGY; THROMBOCYTOPENIA; TRANSFERRIN BLOOD LEVEL; CASE REPORT; FATALITY; GENETICS; NEWBORN; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; FATAL OUTCOME; FEMALE; GLUCOSYLTRANSFERASES; HUMANS; INFANT; INFANT, NEWBORN; MALE; POINT MUTATION;

EID: 84937346934     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0289-7     Document Type: Review

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