PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

Zellweger spectrum disorders (ZSD) are diagnosed by biochemical assay in blood, urine and cultured fibroblasts and PEX gene mutation identification. In most cases studies in fibroblasts corroborate results obtained in body fluids. In 1996 Clayton and colleagues described a 10-year old girl with evid...

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Veröffentlicht in:	Journal of inherited metabolic disease 2009-02, Vol.32 (1), p.109-119
Hauptverfasser:	Steinberg, S. J, Snowden, A, Braverman, N. E, Chen, L, Watkins, P. A, Clayton, P. T, Setchell, K. D. R, Heubi, J. E, Raymond, G. V, Moser, A. B, Moser, H. W
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino Acid Sequence Base Sequence Biochemistry Biological and medical sciences Cells, Cultured Female Fibroblasts - metabolism Human Genetics Humans Internal Medicine Medical genetics Medical sciences Medicine Medicine & Public Health Metabolic Diseases Molecular Sequence Data Mutation - physiology Original Article Pediatrics Pedigree Peroxins Peroxisomes - chemistry Peroxisomes - metabolism Receptors, Cytoplasmic and Nuclear - genetics Receptors, Cytoplasmic and Nuclear - metabolism Zellweger Syndrome - diagnosis Zellweger Syndrome - genetics Zellweger Syndrome - metabolism
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