Homocystinuria: surveillance

Evidence-based neurology checklist on homocystinuria: surveillance: Clinical Cognitive function Cardiac assessment Ophthalmic assessment Routine tests Vitamins and minerals Other indices

Clinical

  • Cognitive function
  • Cardiac assessment
  • Ophthalmic assessment

Routine tests

Vitamins and minerals

Other indices

References

  1. Morris AA, Kožich V, Santra S, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017; 40:49-74. 
  2. Woods E, Dawson C, Senthil L, Geberhiwot T. Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. BMJ Case Rep 2017; pii: bcr2016217477.

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