Leucoencefalopatía con sustancia blanca evanescente: a propósito de un caso

Antonio-Arce, V; Martín Fernández-Mayoralas, D; Muñoz-Jareño, N; Fresneda-Machado, C; Sáiz-Ayala, A; Campos-Castelló, J.
Rev. neurol. (Ed. impr.) ; 43(9): 535-540, 1 nov., 2006. ilus
Artículo en Es | IBECS (España) | ID: ibc-050654

Documentos relacionados

  1. Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
  2. MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, P.LEU150 SER FSX11) ON EXON 6 OF MLC1 GENE.
  3. Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
  4. Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).
  5. Utility of genetic testing in children with leukodystrophy.
  6. A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.
  7. A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
  8. Leukodystrophies.
  9. Van Der Knaap Disease: Young Male with Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Case Report.
  10. [Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].