Novel form of intermediate Salla disease: Clinical and neuroimaging features

Journal of Child Neurology

Volumn 20, Issue 10, 2005, Pages 814-816

  Morse, Richard P ^a   Kleta, Robert ^b,c   Alroy, Joseph ^d,e   Gahl, William A ^b,c  

^a DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c Office of the Director   (United States)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e TUFTS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BIOTINIDASE; CARBOXYLIC ACID; GLUCOSE; LACTIC ACID; OLIGOSACCHARIDE; PROTEOLIPID PROTEIN; SIALIC ACID;

ARTICLE; CASE REPORT; CELL CULTURE; CHILD; CLINICAL FEATURE; CORPUS CALLOSUM; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; ELECTRON MICROSCOPY; ETHNOLOGY; FAMILY HISTORY; FEMALE; FINLAND; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; HYPOPLASIA; INFANT; LYSOSOME; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; OCULOGYRIC CRISIS; OPTIC NERVE DISEASE; PHENOTYPE; PRIORITY JOURNAL; SIALIC ACID STORAGE DISEASE; SKIN BIOPSY; SKIN FIBROBLAST; URINALYSIS;

BRAIN; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON; N-ACETYLNEURAMINIC ACID; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SIALIC ACID STORAGE DISEASE; SKIN;

EID: 31144458112     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200100601     Document Type: Article

References (5)

1. Kleta R, Morse RP, Orvisky E, et al: Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Mol Genet Metab 2004;82:137-143.
2. Aula N: Molecular Pathogenesis of Salla Disease, dissertation. Helsinki, Finland, Department of Molecular Medicine, National Health Public Institute, Biomedicum, 2003.
3. Varho TT, Alajoki LE, Posti KM, et al: Phenotypic spectrum of Salla disease, a free sialic acid storage disorder. Pediatr Neurol 2002;26:267-273.
4. Parazzini C, Saverio A, Marchetti L, et al: Infantile sialic acid storage disease: Serial ultrasound and magnetic resonance imaging features. AJNR Am J Neuroradiol 2003;24:398-400.
5. Linnankivi T, Lonnqvist T, Autti T: A case of Salla disease with involvement of the cerebellar white matter. Neuroradiology 2003;45:107-109.