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- Title
Diagnosis and Follow-Up of a Case of Peroxisomal Disorder With Peroxisomal Mosaicism.
- Authors
Pineda, Mercedes; Giros, Marisa; Roels, Frank; Espeel, Marc; Ruiz, Montserrat; Moser, Ann; Moser, Hugo W.; Wanders, Ronald J.A.; Pavia, Carlos; Conill, Juan; Aracil, Asuncion; Amat, Luis; Pampols, Teresa
- Abstract
Describes the clinical evolution and follow-up of a patient with peroxisomal-disorder-associated peroxisomal mosaicism. Diseases caused by mutation that influence the alteration of the import mechanism of peroxisomal proteins; Clinical symptoms; Correlation between abnormal visual evoked potential and diffuse demyelination of white matter.
- Subjects
PEROXISOMAL disorders; MOSAICISM
- Publication
Journal of Child Neurology, 1999, Vol 14, Issue 7, p434
- ISSN
0883-0738
- Publication type
Article