Phenotypic spectrum of Salla disease, a free sialic acid storage disorder

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Frans W. Verheijen, Elly Verbeek, Nina Aula et al. · Nature Genetics · 1999 · 293 citations

Life Sciences, Genetics, Molecular Biology +5

SYNDROME OF NONVERBAL LEARNING DISABILITIES: NEURODEVELOPMENTAL MANIFESTATIONS

BP Rourke · Neuropediatrics · 2006 · 276 citations

Medicine, Neurology, Pediatrics +17

Syndrome of nonverbal learning disabilities

Byron P. Rourke, Katherine Tsatsanis · Topics in Language Disorders · 1996 · 155 citations

Education, Linguistics, Speech-language Pathology +15

Defective Sialic Acid Egress from Isolated Fibroblast Lysosomes of Patients with Salla Disease

Martin Renlund, Frank Tietze, William A. Gahl · Science · 1986 · 144 citations

Life Sciences, Biochemistry, Cell Biology +15

'Salla Disease'

Perttì Aula · Archives of Neurology · 1979 · 143 citations

Life Sciences, Dermatology, Pathology +16