- Succinyl-CoA ligase deficiency: report on the first patient resulting from a combined defect in SUGL1 an SUGL2 genes
- Late-onset neuropathy and leukodystrophy revealing a peroxisomal biogenesis defect in two girls
- RESOLUTION OF THE MOLECULAR DEFECT IN A PATIENT WITH PEROXISOMAL MOSAICISM IN THE LIVER USING A NEW MEHTOD
- Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.
- Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling.
- A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency.
2000) VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY. 436(5). p.459-465 Mark(
- Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution.
- Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism.
- Cytoplasmic catalase and ghost-like hepatic peroxisomes in a child with bone dysplasia and mental retardation