Inborn Errors of Metabolism in Man, Issue 9Oded Sperling, André De Vries, J. E. Seegmiller S. Karger, 1978 - Metabolism, Inborn errors of |
From inside the book
Results 1-3 of 32
Page 204
... Screening for Inborn Errors of Metabolism R.W.E. Watts Division of Inherited Metabolic Diseases , Clinical Research Centre , Harrow , Middlesex Introduction ... screening for diseases such as phenylketonuria Screening and Prenatal Diagnosis.
... Screening for Inborn Errors of Metabolism R.W.E. Watts Division of Inherited Metabolic Diseases , Clinical Research Centre , Harrow , Middlesex Introduction ... screening for diseases such as phenylketonuria Screening and Prenatal Diagnosis.
Page 208
... screening includes carrier detection studies within a family . The concept of wide multidisease screening can be applied to selective screening when it would be logistically impracticable for whole population screening . A multidisease ...
... screening includes carrier detection studies within a family . The concept of wide multidisease screening can be applied to selective screening when it would be logistically impracticable for whole population screening . A multidisease ...
Page 210
... screening programmes to detect the very rare dis- eases ; ( 2 ) that postnatal , prenatal and carrier screening should be considered and developed collectively ; and ( 3 ) there is an urgent need to develop screening for thallasaemia ...
... screening programmes to detect the very rare dis- eases ; ( 2 ) that postnatal , prenatal and carrier screening should be considered and developed collectively ; and ( 3 ) there is an urgent need to develop screening for thallasaemia ...
Contents
Structural Mutation of Aldolase B | 2 |
Prenatal Diagnosis of Fucosidosis | 7 |
Erythrocyte Glutathione | 16 |
Copyright | |
26 other sections not shown
Common terms and phrases
abnormal Acta aldolase amino acid amniotic fluid assay B12 deficient Basel biochemical Biol biopsy blood brain cell cultures cell lines cholate choline Clin clinical concentration contamination cystathionine cystine defect dehydrogenase demonstrated diabetes diet dietary disorders elevated enzymatic enzyme enzyme activity errors of metabolism erythrocytes excretion fetal fibroblasts FIGLU Gaucher's disease Genet glucocerebrosidase glucocerebrosidase activity glucose glutamate glutathione glycine Glycogen GSD-I heterozygotes hexosaminidase homocystinuria human inactivation inborn errors increased Karger lactate leukocyte HAA leukocytes levels lipid liver lysosomal Medical membrane methionine method mg/dl molecular Monogr muscle Mutant Cell mycoplasma newborn NIG therapy nonketotic hyperglycinemia normal patients Pediat phenylalanine phenylketonuria phosphatase plasma population pregnancies prenatal diagnosis protein pyruvate range renal Repository retardation samples Sandhoff disease screening serum Storage disease studies substrate syndrome Table Tay-Sachs disease tissue treatment Tween Type tyrosine urinary urine vitamin