Congenital disorders of glycosylation type I: A rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes

Pediatric Radiology

Volumn 36, Issue 2, 2006, Pages 108-114

  Hertz Pannier, Lucie ^a   Déchaux, Michele ^a   Sinico, Martine ^b   Emond, Sophie ^a   Cormier Daire, Valerie ^a,c   Saudubray, Jean Marie ^a,c   Brunelle, Francis ^a   Niaudet, Patrick ^a   Seta, Nathalie ^c,d   de Lonlay, Pascale ^a,c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^c GIS Institut des Maladies Rares   (France)

^d BICHAT HOSPITAL   (France)

Author keywords

Children; Congenital disorders of glycosylation; Cysts; Kidney; Ultrasound

Indexed keywords

GLYCAN; GLYCOCONJUGATE; GLYCOPROTEIN;

ARTICLE; CARBOHYDRATE SYNTHESIS; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1B; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1X; DISEASE CLASSIFICATION; ECHOGRAPHY; FEMALE; FETUS; GLYCOPROTEIN SYNTHESIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; KIDNEY CORTEX; KIDNEY DISTAL TUBULE; KIDNEY FUNCTION TEST; KIDNEY MEDULLA; KIDNEY PARENCHYMA; KIDNEY POLYCYSTIC DISEASE; KIDNEY SIZE; MALE; PRENATAL PERIOD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TISSUE DIFFERENTIATION;

CARBOHYDRATE METABOLISM, INBORN ERRORS; CHILD, PRESCHOOL; FEMALE; FETAL DISEASES; FETUS; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY; KIDNEY DISEASES, CYSTIC; MALE; MUTATION; RETROSPECTIVE STUDIES; ULTRASONOGRAPHY, PRENATAL;

EID: 33645741624     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-005-0001-5     Document Type: Article

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