The neurogenetics of mucolipidosis type IV.

Altarescu, G; Sun, M; Moore, D F; Smith, J A; Wiggs, E A; Solomon, B I; Patronas, N J; Frei, K P; Gupta, S; Kaneski, C R; Quarrell, O W; Slaugenhaupt, S A; Goldin, E; Schiffmann, R

Altarescu, G; Sun, M; Moore, D F; Smith, J A; Wiggs, E A; Solomon, B I; Patronas, N J; Frei, K P; Gupta, S; Kaneski, C R; Quarrell, O W; Slaugenhaupt, S A; Goldin, E; Schiffmann, R.

Affiliation

Altarescu G; Developmental and Metabolic Neurology Branch, National Institute of Neurologic Disorders and Stroke/NIH, 9000 Rockville Pike, Building 10, Rm. 3D03, Bethesda, MD 20892-1260, USA.

Neurology ; 59(3): 306-13, 2002 Aug 13.

Article in En | MEDLINE | ID: mdl-12182165

Subject(s)

Membrane Proteins/genetics; Mucolipidoses/genetics; Mucolipidoses/physiopathology; Adolescent; Adult; Child; Child, Preschool; Corpus Callosum/pathology; Diagnosis, Differential; Electroencephalography; Female; Follow-Up Studies; Genotype; Humans; Male; Membrane Proteins/chemistry; Mucolipidoses/diagnosis; Mucolipidoses/pathology; Mutation/genetics; Phenotype; Prospective Studies; TRPM Cation Channels; Transient Receptor Potential Channels

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Collection: 01-internacional Database: MEDLINE Main subject: Membrane Proteins / Mucolipidoses Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Neurology Year: 2002 Document type: Article Affiliation country: United States Country of publication: United States

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