Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder

Pediatric Neurology

Volumn 42, Issue 3, 2010, Pages 223-226

  Geer, Joseph S ^a   Skinner, Steve A ^a   Goldin, Ehud ^b   Holden, Kenton R ^a,c  

^a GREENWOOD GENETIC CENTER   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GASTRIN; MITOCHONDRIAL DNA;

ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHILD; CORNEA DISEASE; CORNEA OPACITY; CORPUS CALLOSUM; DEGENERATIVE DISEASE; ELECTROENCEPHALOGRAM; ETHNICITY; EYE EXAMINATION; FAMILY HISTORY; FEMALE; FOLLOW UP; GASTRIN BLOOD LEVEL; GENE; GENE INSERTION; GENE MUTATION; HUMAN; HYPOPLASIA; LABORATORY TEST; LANGUAGE DISABILITY; LYSOSOME STORAGE DISEASE; MCOLN1 GENE; MUCOLIPIDOSIS TYPE IV; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYELINATION; NERVE DEGENERATION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ORTHOTICS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SKIN BIOPSY; SLIT LAMP; SPASTICITY; STRABISMUS; WALKING DIFFICULTY; WHITE MATTER;

BRAIN; CHILD; CHILD, PRESCHOOL; CPG ISLANDS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HAPLOTYPES; HUMANS; JEWS; MAGNETIC RESONANCE IMAGING; MEMBRANE PROTEINS; MUCOLIPIDOSES; MUTATION, MISSENSE; NEURODEGENERATIVE DISEASES; POLYMERASE CHAIN REACTION; TRPM CATION CHANNELS;

EID: 76249097468     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2009.10.002     Document Type: Article

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