Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin

Normal deposition of brain iron in childhood and adolescence: MR imaging at 1.5 T.

Shuri Aoki, Y. Okada, K Nishimura et al. · Radiology · 1989 · 175 citations

Medicine, Neuroscience, Radiology +14

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

Michael C. Kruer, M. Hiken, Allison Gregory et al. · Brain · 2011 · 123 citations · Full text

Medicine, Neurology, Neuroscience +17

Magnetic Resonance of Myelination and Myelin Disorders

Shelley Renowden · Journal of Neurology · 2006 · 108 citations

Medicine, Neurology, Neuroscience +14

A NEW MUCOPOLYSACCHARIDE LIPIDSTORAGE DISEASE?

P. Durand · The Lancet · 1966 · 92 citations

Life Sciences, Biochemistry, Immunology +5

Amelioration of clinical disease following bone marrow transplantation in fucosidase‐deficient dogs

Rosanne M. Taylor, Brian R. H. Farrow, Graeme J. Stewart · American Journal of Medical Genetics · 1992 · 81 citations

Life Sciences, Pathology, Veterinary Clinical Sciences +17