Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1822, Issue 9, 2012, Pages 1421-1429

  Poll The, Bwee Tien ^a   Gärtner, Jutta ^b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

D bifunctional protein deficiency; Peroxisomal acyl CoA oxidase deficiency; Peroxisomal disorder; Rhizomelic chondrodysplasia punctata; X linked adrenoleukodystrophy; Zellweger spectrum disorder

Indexed keywords

PEROXIN;

ADRENOLEUKODYSTROPHY; BIOCHEMISTRY; CHONDRODYSPLASIA PUNCTATA; DISORDERS OF PEROXISOMAL FUNCTIONS; FATTY ACID OXIDATION; HUMAN; INFANTILE REFSUM DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE; REVIEW; ZELLWEGER SYNDROME;

BRAIN; DIAGNOSIS, DIFFERENTIAL; HUMANS; LIPID METABOLISM; MAGNETIC RESONANCE IMAGING; NEUROIMAGING; PEROXISOMAL DISORDERS; PHENOTYPE;

EID: 84864068395     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2012.03.011     Document Type: Review

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