Perttì Aula
University of Helsinki(FI)Kyoto University(JP)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycosylation and Glycoproteins Research, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders
Most-Cited Works
- → A deletion in chromosome 22 can cause digeorge syndrome(1981)379 cited
- → A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases(1999)293 cited
- → The 11q;22q translocation: A European collaborative analysis of 43 cases(1980)201 cited
- → 'Salla Disease'(1979)143 cited
- → Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1(1991)133 cited
- → The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation(2000)129 cited
- Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.