Inborn errors of metabolism in man: first International Symposium on Inborn Errors of Metabolism in Man, Tel Aviv, June 19-25, 1977, Volume 9 |
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Contents
Structural Mutation of Aldolase B | 2 |
Erythrocyte Glutathione | 16 |
Glycogen Storage Diseases | 29 |
Copyright | |
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Common terms and phrases
3-synthase abnormal Acta aldolase amino acid amniotic cells amniotic fluid assay Basel biochemical biopsy birth blood carrier cell cultures cell lines cholate choline Clin clinical concentration contamination cystathionine cystine defect deficiency detergents diet dietary disorders elevated enzymatic enzyme enzyme activity errors of metabolism erythrocytes excretion fetal fibroblasts FIGLU folic acid Gaucher's disease Genet glucocerebrosidase glucose glutamate glutathione glycine heterozygotes hexosaminidase histidine homocystinuria human iminoglycinuria inactivation inborn errors increased infants Karger leukocytes levels lipid liver lysosomal lysozyme Medical membrane metabolism methionine method mg/dl molecular Monogr MSUD Mutant Cell mycoplasma newborn non-TSD fetuses nonketotic hyperglycinemia normal patients Pediat phenylalanine phenylketonuria phosphatase plasma population pregnancies prenatal diagnosis protein pyruvate range renal Repository retardation samples screening serum sodium storage disease studies substrate syndrome Table Tay-Sachs disease techniques tissue Triton Tween tyrosine urinary urine vitamin