Differing clinical presentations of two unrelated cases of X-linked adrenoleukodystrophy with identical mutation Y296C in the ABCD1 gene

Neuroendocrinology Letters

Volumn 35, Issue 5, 2014, Pages 411-416

  Šutovský, Stanislav ^a   Kolníková, Miriam ^b   Petrovič, Róbert ^c   Kollár, Branislav ^a   Šiarnik, Pavel ^a   Chandoga, Ján ^c   Fischerová, Mária ^c   Turčáni, Peter ^a  

^a UNIVERSITY HOSPITAL BRATISLAVA   (Slovakia)

^b Detska fakultna nemocnica s poliklinikou   (Slovakia)

^c Physics and Informatics   (Slovakia)

Author keywords

Bone marrow transplantation; Cognitive decline; Frontal lobe impairment; Mutation in ABCD1 gene; X linked adrenoleukodystrophy

Indexed keywords

ADENOSINE TRIPHOSPHATE; ADENOSINE TRIPHOSPHATE BINDING CASSETTE D1; UNCLASSIFIED DRUG; ABC TRANSPORTER; ABCD1 PROTEIN, HUMAN;

ADDISON DISEASE; ADOLESCENT; ADRENAL INSUFFICIENCY; ADRENOLEUKODYSTROPHY; AGED; ALPHA RHYTHM; APATHY; ARTICLE; ASSESSMENT OF HUMANS; BONE MARROW TRANSPLANTATION; CASE REPORT; CLINICAL EXAMINATION; COGNITIVE DEFECT; DEMENTIA; DEMYELINATION; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; EXON; FRONTAL ASSESSMENT BATTERY TEST; GENE MUTATION; HUMAN; MALE; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PROGNOSIS; QUADRIPLEGIA; RAVEN PROGRESSIVE MATRICESS; REY OSTERRIETH COMPLEX FIGURE TEST; TRIAL MAKING TEST; URINE INCONTINENCE; X LINKED ADRENOLEUKODYSTROPHY; AMINO ACID SEQUENCE; BRAIN; COGNITION DISORDERS; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADRENAL INSUFFICIENCY; ADRENOLEUKODYSTROPHY; AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; BRAIN; COGNITION DISORDERS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE;

EID: 84922541623     PISSN: 0172780X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

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