Congenital disorders of glycosylation: Rapidly enlarging group of (neuro)metabolic disorders

Early Human Development

Volumn 83, Issue 12, 2007, Pages 825-830

  Grünewald, Stephanie ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

CDG; COG; Congenital disorders of glycosylation; Glycosylation defects

Indexed keywords

ACETYLSALICYLIC ACID; ALBUMIN; AMINOTRANSFERASE; ANTITHROMBIN III; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; CHOLESTEROL; FOLLITROPIN; FUCOSE; LUTEINIZING HORMONE; MANNOSE; PROLACTIN; PROTEIN C; PROTEIN S; THYROTROPIN; THYROXINE; TRIACYLGLYCEROL;

ANEMIA; ARTHROGRYPOSIS; ARTICLE; ASCITES; BLOOD CLOTTING DISORDER; CARDIOMYOPATHY; CEREBELLUM HYPOPLASIA; CEREBRAL BLINDNESS; CHOLANGITIS; CHRONIC DIARRHEA; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CONGENITAL NYSTAGMUS; DEVELOPMENTAL DISORDER; DIVERGENT STRABISMUS; EHLERS DANLOS SYNDROME; EYE MOVEMENT DISORDER; FACE DYSMORPHIA; FAILURE TO THRIVE; GROWTH RETARDATION; HEPATOMEGALY; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; HYDROPS; HYPERGONADOTROPIC HYPOGONADISM; HYPERINSULINEMIA; HYPOGAMMAGLOBULINEMIA; HYPOGLYCEMIA; HYPOREFLEXIA; HYPOTHYROIDISM; INFANTILE HYPOTONIA; INTESTINE VILLUS ATROPHY; IRIS COLOBOMA; JOINT CONTRACTURE; KIDNEY POLYCYSTIC DISEASE; KIDNEY TUBULE DISORDER; KYPHOSIS; LABORATORY TEST; LEUKOCYTOSIS; LIVER DYSFUNCTION; MACROCEPHALY; MICROCEPHALY; MICROGYRIA; MULTIPLE ORGAN FAILURE; MUSCLE HYPOTONIA; OSTEOPENIA; PERICARDIAL EFFUSION; PRENATAL DIAGNOSIS; PROTEIN LOSING GASTROENTEROPATHY; RECURRENT INFECTION; RETINITIS PIGMENTOSA; SCOLIOSIS; SEIZURE; SHORT LIMBED DWARFISM; STROKE; THROMBOCYTOPENIA; THROMBOCYTOSIS; THROMBOSIS; VOMITING; WHITE MATTER;

GLYCOSYLATION; HUMANS; METABOLIC DISEASES;

EID: 35548953223     PISSN: 03783782     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.earlhumdev.2007.09.016     Document Type: Article

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