Prenatal ultrasound diagnosis of Leroy I cell disease

Ultrasound in Obstetrics and Gynecology

Volumn 18, Issue 3, 2001, Pages 275-276

  Lees, C ^a,b   Homfray, T ^b   Nicolaides, K H ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Leroy I cell disease; Prenatal diagnosis; Ultrasound diagnosis

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FEMALE; FETUS; FETUS ECHOGRAPHY; GESTATIONAL AGE; HUMAN; HYDRAMNIOS; MUCOLIPIDOSIS TYPE 2; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; FEMALE; FETAL DISEASES; HUMANS; INFANT, NEWBORN; MALE; MUCOLIPIDOSES; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0034837548     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2001.00446.x     Document Type: Article

References (7)

1. Cell disease
2. First trimester prenatal evaluation for I cell disease by N-acetyl-glucosamine 1-phosphotransferase assay
3. Prenatal diagnosis of I cell disease by measuring altered alpha-mannosidase activity in amniotic fluid
4. Mucolipidosis II & III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis
5. Mutant enzymatic and cytological phenotypes in cultured human fibroblasts
6. I-Cell disease: Clinical studies of 21 Japanese cases
7. Inter and intrafamilial variability in mucolipidosis II (I-cell disease)