Second-trimester diagnosis of mucopolysaccharidosis type IV a presenting as hydrops fetalis.
Colmant
Claire
C
Picone
Olivier
O
Froissart
Roseline
R
Labrune
Philippe
P
Senat
Marie-Victoire
MV
D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D000649:Amniocentesis / Q000379:methods*; D000650:Amnion / Q000378:metabolism; D000653:Amniotic Fluid / Q000737:chemistry; D002811:Chondroitinsulfatases / Q000172:deficiency / Q000378:metabolism; D003937:Diagnosis, Differential; D004863:Equinus Deformity / Q000473:pathology; D005260:Female; D005333:Fetus / Q000601:surgery; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis* / Q000209:etiology; D007231:Infant, Newborn; D007632:Keratan Sulfate / Q000032:analysis; D009085:Mucopolysaccharidosis IV / Q000150:complications / Q000175:diagnosis*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second
D006025:Glycosaminoglycans; D007632:Keratan Sulfate; D002811:Chondroitinsulfatases; C102295:GALNS protein, human