Multiple Sulfatase Deficiency
Last Posted: Mar 01, 2023
- Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Pekgül Faruk, et al. Molecular genetics and metabolism reports 2020 0 100688
- Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Adang Laura A, et al. Journal of inherited metabolic disease 2020 0 (6) 1298-1309
- Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Saleh Maha et al. Case reports in genetics 2022 20229393042
- Multiple sulfatase deficiency
From NCATS Genetic and Rare Diseases Information Center
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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