Phenotypic variability (heterogeneity) of peroxisomal disorders

Advances in Experimental Medicine and Biology

Volumn 544, Issue , 2003, Pages 9-30

  Mandel, Hanna ^a   Korman, Stanley H ^b  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; ACETYL COENZYME A ACYLTRANSFERASE; ACYL COENZYME A OXIDASE; ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; MEVALONIC ACID KINASE; PHOSPHOTRANSFERASE; PLASMALOGEN; PLASMINOGEN; RACEMASE; SYNTHETASE; UNCLASSIFIED DRUG;

ACIDEMIA; ACIDURIA; ADRENOLEUKODYSTROPHY; CATALASE DEFICIENCY; CHEMICAL ANALYSIS; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; CONFERENCE PAPER; CORRELATION ANALYSIS; DIAGNOSTIC VALUE; DISEASE ACTIVITY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE DELETION; GENE MUTATION; GENETIC HETEROGENEITY; GLUTARIC ACIDURIA; HUMAN; HYPERPIPECOLATEMIA; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; OXALOSIS 1; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN SYNTHESIS; REFSUM DISEASE; USHER SYNDROME; X CHROMOSOME LINKED DISORDER; ZELLWEGER SYNDROME;

EID: 1542343821     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-9072-3_2     Document Type: Conference Paper

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