Discussion Infantile sialic acid storage disease is a severe rare inborn lysosomal storage
disorder caused by defective transport of free sialic acid through the lysosomal membrane …

We report a 4-year-old Japanese girl with infantile sialic acid storage disease. She
presented with failure to thrive, coarse facial features, hepatosplenomegaly, severe mental …

A child with infantile sialic acid storage disease is reported. Ultrasonography demonstrated
fetal ascites. At birth, the infant appeared hydropic and presented with numerous …

We report a case of infantile sialic acid storage disease (ISSD) in a black infant presenting in
utero with nonimmune hydrops, ascites, and anemia requiring intrauterine transfusion …

Cerebral palsy caused by perinatal insult is a frequent cause of static encephalopathy, but
metabolic or genetic disorders can present with similar nonspecific features. A 6-year-old …

Sialic acid storage disease (SASD) is a rare autosomal recessive lysosomal storage
disorder characterized by excessive urinary excretion of free sialic acid and an accumulation …

We report on a boy who presented at birth with gastroschisis and thereafter developed the
characteristic clinical symptoms of infantile sialic acid storage disease within the first two …

Infantile free sialic acid storage disease (ISSD) is a rare autosomal recessive metabolic
disorder caused by a lysosomal membrane transport defect, resulting in accumulation of free …

The first case of infantile sialic acid storage disease in Czech Republic is presented in a four-
and-half year-old girl. The clinical phenotype consisted of moderate hepatosplenomegaly …

Infantile free sialic acid storage disease (ISSD), is an inherited metabolic disorder
characterized by hyperexcretion of free sialic acid in the urine and by its storage in the …