[Ruling out fetal Sanfilippo's syndrome (mucopolysaccharidosis IIIA) in the first trimester of pregnancy]

Autor:	A, Bolodár, O, Török, M, Szabó, V, Váradi, Z, Papp
Rok vydání:	1989
Předmět:	Adult Diagnosis Differential Fetal Diseases Mucopolysaccharidosis III Pregnancy Trimester First Pregnancy Prenatal Diagnosis Humans Female Mucopolysaccharidoses
Zdroj:	Orvosi hetilap. 130(5)
ISSN:	0030-6002
Popis:	The defect of the enzyme heparan sulfamidase is the cause of Sanfilippo A syndrome (mucopolysaccharidosis IIIA) which is an autosomal recessive inherited disease. Three children of a marriage couple who attended our genetical counselling died of this disease which at the moment is incurable. At the 10th week of the following pregnancy chorion villi analysis was carried out and normal values of the enzyme heparan sulfamidase were obtained. In view of this it was decided that pregnancy should continue. At the moment the child is one year old and clinical and laboratory findings also show that she is not affected.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::701c41e0970a9e3dc6450f12ef90f490 https://pubmed.ncbi.nlm.nih.gov/2492654 Zobrazit plný text záznamu