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Aula P Raivio K Autio S Thoden C E Rapola J Koskela S L and Yama
Davidson A G F Wong L T K Kirby L Tze W J Rigg J M and Applegarth D
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14C-formate a-L-fucosidase abnormal acatalasemia adenine adenosine deaminase affected alkaline phosphatase amniotic fluid amniotic fluid cells APRT assay beta-galactosidase biochemical biol biopsy Cancer catalase chromatography clin clinical compounds concentration copper cultured fibroblasts cultured skin fibroblasts cytoplasmic defect Department electron microscopy enzyme activity errors of metabolism erythrocyte excretion fibroblasts fucosidase fucosidosis genetic gout growth heterozygotes HGPRT deficiency HPRT human hypophosphatasia hypoxanthine inborn error increased incubation individuals inosine intracellular Karger Lesch-Nyhan Lesch-Nyhan syndrome leukocytes liver lymphoblast lymphocytes mannosidosis Medical medium membrane Menkes mentally retarded method mitochondrial Monogr Mucolipidosis Mucolipidosis IV muscle mutant cells myopathy natn oligosaccharides patients Pediat plasma porphyria prenatal diagnosis propositus protein PRPP purine metabolism purine nucleoside purine overproduction purine synthesis pyrimidine radioactive red blood cells renal samples Seegmiller showed studies syndrome synthesis de novo synthetase Table therapy tissue tubular uptake urate uric acid uridine urinary urine URO-S levels