An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis.
نویسندگان
چکیده
منابع مشابه
An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis.
A female newborn probably with a variant form of galactosialidosis is described. The patient, in addition to the common findings seen in early infantile forms of classical galactosialidosis, displayed an unusual combination of congenital malformations including complex cyanotic congenital heart disease with dextrocardia and situs inversus.
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.6.423