Inborn Errors of Metabolism in Man, Issue 9Oded Sperling, André De Vries, J. E. Seegmiller S. Karger, 1978 - Metabolism, Inborn errors of |
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Page 193
... clinical course . Patients with the other clinical form , i.e. Wolman's disease , demonstrate hepatomegaly , early failure to thrive and store similar lipids . Typically , these patients additionally have enlarged calcified adrenals on ...
... clinical course . Patients with the other clinical form , i.e. Wolman's disease , demonstrate hepatomegaly , early failure to thrive and store similar lipids . Typically , these patients additionally have enlarged calcified adrenals on ...
Page 196
... clinical abnormalities for those cases lacking description of eye find- ings . Our review of the published cases of acid lipase deficiency revealed no other patient in which electrophysiologic evaluation was undertaken . Two autopsy ...
... clinical abnormalities for those cases lacking description of eye find- ings . Our review of the published cases of acid lipase deficiency revealed no other patient in which electrophysiologic evaluation was undertaken . Two autopsy ...
Page 204
... Clinical Research Centre , Harrow , Middlesex Introduction A screening test is any diagnostic procedure which we apply without a specific clinical indication from the point of view of the individual patient concerned . The inborn errors ...
... Clinical Research Centre , Harrow , Middlesex Introduction A screening test is any diagnostic procedure which we apply without a specific clinical indication from the point of view of the individual patient concerned . The inborn errors ...
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