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Publications by Päivi Pietilä‐Effati

Natural Course of Fabry Disease With the P. Arg227Ter (p.R227*) Mutation in Finland: Fast Study

Molecular genetics & genomic medicine

Molecular Biology

English

Related publications

Cognitive Impairment and Fabry Disease: A Case Report With Mutation S126G

Neuropsychological Trends

Molecular Neuroscience

Physiological Psychology

Neuropsychology

English

p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

American Journal of Case Reports

English

Natural Course of Meniere's Disease

Practica Otologica

Otorhinolaryngology

English

Newborn Screening for Fabry Disease in Japan: Prevalence and Genotypes of Fabry Disease in a Pilot Study

Journal of Human Genetics

English

AB050. Later Onset Fabry Disease, Cardiac Damage Progress in Silence-Experience With a Highly Prevalent Mutation

Annals of Translational Medicine

English

Hearing Loss in Children With Fabry Disease

Journal of Inherited Metabolic Disease

English

Japanese Patients With Fabry Disease Predominantly Showing Cardiac and Neurological Manifestation With Novel Missense Mutation: R220P

Journal of Cardiology

Cardiovascular Medicine

English

Fabry Disease

Revista de la Facultad de Medicina Humana

English

Clinical Course of Patients With Fabry Disease Who Were Switched From Agalsidase-Β to Agalsidase-Α

Genetics in Medicine

English