Prenatal analyses in a pregnancy at risk for β-mannosidosis

Prenatal analyses were performed in the pregnancy of the mother of a patient with β‐mannosidase deficiency. Partial deficiency of β‐mannosidase activity in the chorionic villi indicated a heterozygous fetus and this first‐trimester diagnosis was subsequently confirmed by amniocentesis. Copyright

• View at Publisher
• View at Pubmed
• View at Scopus
• View at Web of Science