Inborn Errors of Metabolism in Man, Issue 10Oded Sperling, André De Vries, J. E. Seegmiller S. Karger, 1978 - Metabolism, Inborn errors of |
Contents
The Mucopolysaccharidoses | 2 |
Aula P Raivio K Autio S Thoden C E Rapola J Koskela S L and Yama | 16 |
Davidson A G F Wong L T K Kirby L Tze W J Rigg J M and Applegarth D | 29 |
Copyright | |
25 other sections not shown
Common terms and phrases
a-L-fucosidase abnormal acatalasemia Acta adenine alkaline phosphatase amniotic fluid amniotic fluid cells assays attacks Basel bile acids biochemical biopsy Cancer carrier catalase cholestasis cholestatic hepatitis chromatography clin clinical concentration copper cultured fibroblasts cytoplasmic defect described disease electron microscopy enzyme enzyme activity error of metabolism erythrocyte excretion fibroblasts fucosidase fucosidosis Genet gout growth hepatitis heterozygotes HGPRT deficiency Hospital HPRT human hypophosphatasia hypoxanthine inborn error increased incubation individuals intracellular Karger Lesch-Nyhan leucocyte liver lymphocytes lysosomal enzymes lysosomal storage mannosidosis Medical medium membrane Menkes method mitochondrial Monogr Mucolipidosis Mucolipidosis II muscle mutant myopathy natn novo oligosaccharides patients plasma porphyria pregnancy prenatal diagnosis propositus propranolol protein protoporphyrin PRPP purine metabolism purine nucleoside purine synthesis pyrimidine radioactive red blood cells renal retardation samples Seegmiller showed studies syndrome synthetase Table therapy tissue uptake urate uric acid urinary urine URO-S levels