Mucolipidosis type IV: An update

Molecular Genetics and Metabolism

Volumn 104, Issue 3, 2011, Pages 206-213

  Wakabayashi, Kazuyo ^a   Gustafson, Ann Marie ^a   Sidransky, Ellen ^a   Goldin, Ehud ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Cation channel; Corpus collosum; Gastrin; Lysosomal storage disorder; Mucolipidiosis; Mucolipin

Indexed keywords

CATION CHANNEL; CHLOROQUINE; IRON; MUCOLIPIN 1; NIGERICIN; PROTEIN; UNCLASSIFIED DRUG;

BRAIN ATROPHY; CLINICAL FEATURE; CORNEA TRANSPLANTATION; CORPUS CALLOSUM; DYSPHAGIA; ETHNIC DIFFERENCE; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; HYPERSALIVATION; IRON DEFICIENCY ANEMIA; IRON THERAPY; MISSENSE MUTATION; MOLECULAR GENETICS; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; MUSCLE HYPOTONIA; NONHUMAN; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PTOSIS; REVIEW; SKIN BIOPSY; STRABISMUS; SYMPTOM; VISUAL IMPAIRMENT;

ANIMALS; CAENORHABDITIS ELEGANS; DIAGNOSIS, DIFFERENTIAL; DROSOPHILA MELANOGASTER; EYE; GASTRINS; HUMANS; INCLUSION BODIES; JEWS; MICE; MODELS, ANIMAL; MUCOLIPIDOSES; NERVOUS SYSTEM; TRANSIENT RECEPTOR POTENTIAL CHANNELS;

EID: 82455208886     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.06.006     Document Type: Review

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