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Human Genomics, ISSN 1473-9542, 2011, Volume 5, Issue 3, pp. 156 - 169
Lysosomal storage disorders (LSDs) are a large group of more than 50 different inherited metabolic diseases which, in the great majority of cases, result from... 
Lysosomal Storage Diseases - diagnosis | Specimen Handling | Phenotype | Proteins - metabolism | Humans | Chorionic Villi Sampling | Lysosomal Storage Diseases - genetics | Lysosomal Storage Diseases - metabolism | Genotype | Prenatal Diagnosis - methods | Genetic Testing - methods | Polymorphism, Genetic
Journal Article
Journal Article
Clinical Therapeutics, ISSN 0149-2918, 2009, Volume 31, Issue 3, pp. S177 - S178
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 507 - 511
The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T4G; L444P) that may have appeared... 
EXPERIENCE | ENZYME REPLACEMENT THERAPY | INFUSION THERAPY | HOMOZYGOTES | MUTATION | GENETICS & HEREDITY | Humans | Middle Aged | Gaucher Disease - epidemiology | Genotype | Male | Sweden - epidemiology | Phenotype | Gaucher Disease - genetics | beta-Glucosidase - genetics | Age of Onset | Adult | Female | Gaucher Disease - physiopathology | Italy - epidemiology
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, p. 19
Background: To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the... 
NCL Genes | Italy | Childhood NCL | Epidemiology | MEDICINE, RESEARCH & EXPERIMENTAL | CLN1 GENE | WEST | BATTEN-DISEASE | PATIENT | MUTATIONS | Molecular Epidemiology | Humans | Female | Italy - epidemiology | Male | Child | Neuronal Ceroid-Lipofuscinoses - epidemiology | Cohort Studies
Journal Article
Journal Article