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  3. Research By Disease

Disease: Idiopathic basal ganglia calcification- childhood onset

  • Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report
  • Cerebellar ataxia: a rare revelation of Fahr syndrome
  • Childhood arterial ischemic stroke due to mineralizing angiopathy: an 18-year single-center experience
  • Expansion of the phenotype of Kosaki overgrowth syndrome
  • Fahr's disease in two siblings in a family: A case report
  • Familial IBGC caused by SLC20A2 mutation presenting as paroxysmal kinesigenic dyskinesia
  • Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?
  • Mineralizing angiopathy presenting with recurrence of basal ganglia stroke following minor head trauma
  • Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion
  • The case | Renal tubular acidosis and eye findings
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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