Diagnosis of spinal xanthomatosis by next-generation sequencing: Identifying a rare, treatable mimic of hereditary spastic paraparesis

Practical Neurology

Volumn 15, Issue 4, 2015, Pages 280-283

  Nicholls, Zoe ^a   Hobson, Esther ^a   Martindale, Joanne ^b   Shaw, Pamela J ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTANETRIOL 26 MONOOXYGENASE; CYP27A1 PROTEIN, HUMAN;

ADULT; CASE REPORT; DNA SEQUENCE; GENETICS; HUMAN; MALE; MUTATION; PROCEDURES; SPINAL CORD DISEASES; XANTHOMATOSIS;

ADULT; CHOLESTANETRIOL 26-MONOOXYGENASE; HUMANS; MALE; MUTATION; SEQUENCE ANALYSIS, DNA; SPINAL CORD DISEASES; XANTHOMATOSIS;

EID: 84937432862     PISSN: 14747758     EISSN: 14747766     Source Type: Journal    
DOI: 10.1136/practneurol-2015-001117     Document Type: Article

References (12)

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