Clinical features of the peroxisomal disorders;Manifestaciones clinicas de los trastornos peroxisomales

Revista de Neurologia

Volumn 27, Issue 156, 1998, Pages 296-300

  Chaves Carballo, E ^a  

^a Hospital de Especialistas y Centro de Investigaciones del Rey Faisal   (Saudi Arabia)

Author keywords

Craniofacial dysmorphism; Inborn errors of metabolism; Peroxisomal disorders; Zellweger's syndrome

Indexed keywords

VERY LONG CHAIN FATTY ACID;

ADRENOLEUKODYSTROPHY; ARTICLE; CATALASE DEFICIENCY; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DISEASE CLASSIFICATION; DISORDERS OF PEROXISOMAL FUNCTIONS; GENOTYPE; HUMAN; LIVER DYSFUNCTION; MUSCLE HYPOTONIA; NEUROPATHOLOGY; OXALOSIS 1; PATHOPHYSIOLOGY; REFSUM DISEASE; ZELLWEGER SYNDROME; CHILD; PRESCHOOL CHILD; REVIEW;

CHILD; CHILD, PRESCHOOL; HUMANS; PEROXISOMAL DISORDERS;

EID: 0032132901     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.27156.98061     Document Type: Article

References (2)

1. Brown FR, Voigt R, Singh AK, Singh I. Peroxisomal disorders. Neurodevelopmental and biochemical aspects. Am J Dis Child 1993; 147: 617-26.
2. Braverman N, Dodt G, Gould SJ, Valle D. Disorders of peroxisome biogenesis. Human Mol Genet 1995; 4: 1791-8.