Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune fetal hydrops: study of a family and technical approach to prenatal diagnosis in early and late pregnancy.
Geipel
A
A
Berg
C
C
Germer
U
U
Krapp
M
M
Kohl
M
M
Gembruch
U
U
D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D005966:Glucuronidase / Q000172:deficiency; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000209:etiology*; D016538:Mucopolysaccharidosis VII / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D009333:Neck / Q000000981:diagnostic imaging* / Q000196:embryology; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
D005966:Glucuronidase