Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism

Journal of Child Neurology

Volumn 14, Issue 7, 1999, Pages 434-439

  Pineda, Mercedes ^a   Girós, Marisa ^b   Roels, Frank ^c   Espeel, Marc ^c   Ruiz, Montserrat ^b   Moser, Ann ^d   Moser, Hugo W ^d   Wanders, Ronald J A ^e   Pavia, Carlos ^a   Conill, Juan ^a   Aracil, Asunción ^a   Amat, Luis ^a   Pampols, Teresa ^b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

^c GHENT UNIVERSITY   (Belgium)

^d Kennedy Krieger Institute   (United States)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALPHA FETOPROTEIN; ASPARTATE AMINOTRANSFERASE; BILE ACID; CATALASE; DICARBOXYLIC ACID; DOCOSAHEXAENOIC ACID; GAMMA GLUTAMYLTRANSFERASE; GLYCOGEN; HYDROCORTISONE; PHYTANIC ACID; PLASMALOGEN; PROTEIN; VERY LONG CHAIN FATTY ACID;

ADOLESCENT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTROENCEPHALOGRAPHY; FATTY ACID OXIDATION; FOLLOW UP; GENE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; LIVER; MALE; MICROSCOPY; MOSAICISM; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032782839     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389901400705     Document Type: Article

References (21)

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