Hyperpipecolic acidaemia: A diagnostic tool for peroxisomal disorders

Molecular Genetics and Metabolism

Volumn 82, Issue 3, 2004, Pages 224-230

  Peduto, Antonella ^a   Baumgartner, Matthias R ^b   Verhoeven, Nanda M ^c   Rabier, Daniel ^d   Spada, Marco ^a   Nassogne, Marie Cecile ^e   Poll The, Bwee Tien T ^c   Bonetti, Giovanni ^a   Jakobs, Cornelis ^c   Saudubray, Jean Marie ^d  

^a UNIVERSITY OF TURIN   (Italy)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; PIPECOLIC ACID;

ACIDEMIA; ADOLESCENT; ADRENOLEUKODYSTROPHY; ADULT; ARTICLE; BIOGENESIS; CELL HETEROGENEITY; CHEMICAL ANALYSIS; CHILD; CHONDRODYSPLASIA PUNCTATA; CHROMATOGRAPHY; CLINICAL FEATURE; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; FATTY ACID OXIDATION; HUMAN; MAJOR CLINICAL STUDY; OXIDATION; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE; SCHOOL CHILD; SPECTRUM OF CONGENITAL DEFECTS; SUPPLEMENTATION; ZELLWEGER SYNDROME;

ADOLESCENT; ADULT; BILE ACIDS AND SALTS; CHROMATOGRAPHY; FATTY ACIDS; FEMALE; FRANCE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; IMMUNOBLOTTING; INFANT; ITALY; LIVER; MALE; PEROXISOMAL DISORDERS; PEROXISOMES; PHYTANIC ACID; PIPECOLIC ACIDS;

EID: 3242668209     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.04.010     Document Type: Article

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