Leukodystrophies
Evidence-based neurology checklist on leukodystrophies: Leukodystrophies 4H syndrome 18q minus syndrome Adrenoleukodystrophy (ALD) Aicardi-Goutières syndrome (AGS) Alexander disease Canavan Disease Fucosidosis Hypomyelination with congenital cataracts Pelizaeus Merzbacher disease Sialic acid…
Leukodystrophies
- 4H syndrome
- 18q minus syndrome
- Adrenoleukodystrophy (ALD)
- Aicardi-Goutières syndrome (AGS)
- Alexander disease
- Canavan Disease
- Fucosidosis
- Hypomyelination with congenital cataracts
- Pelizaeus Merzbacher disease
- Sialic acid storage diseases
- Vanishing white matter disease
References
- Sedel F. Inborn errors of metabolism in adult neurology. Rev Neurol (Paris) 2013; 169(Suppl 1):S63-S69.
- Gray RGF, Preece MA, Green SH, Whitehouse W, Winer J, Green A. Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation. JNNP 2000; 69:5-12.
- Christopher R, Sankaran BP. An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist. Ann Indian Acad Neurol 2008; 11:68-81.
- Martins AM. Inborn errors of metabolism: a clinical overview. Sao Paulo Med J 1999; 117:251-265.
- Vanderver A, Prust M, Tonduti D, et al; GLIA Consortium. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab 2015; 114:494-500.
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