Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations

Neuropediatrics

Volumn 38, Issue 3, 2007, Pages 154-156

  Castellano Chiodo, D ^a,b   DiRocco, M ^a   Gandolfo, C ^a   Morana, G ^a   Buzzi, D ^a   Rossi, A ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

Author keywords

Ceroid lipofuscinosis; Neurodegeneration; Osteopetrosis

Indexed keywords

CORTICOSTEROID; MEMBRANE PROTEIN; OSTEOPOROSIS ASSOCIATED TRANSMEMBRANE PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE RADIOGRAPHY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; CORTICOSTEROID THERAPY; DEGENERATIVE DISEASE; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; MALIGNANT INFANTILE OSTEOPOROSIS; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; PALLIATIVE THERAPY; PRIORITY JOURNAL;

ASPARTIC ACID; CHOLINE; CREATINE; DNA MUTATIONAL ANALYSIS; FEMALE; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MEMBRANE PROTEINS; MUTATION; OSTEOPETROSIS; UBIQUITIN-PROTEIN LIGASES;

EID: 36649014041     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-990267     Document Type: Article

References (8)

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