Deficiency biochemical

M5. Maekawa, M Sudo, K., Kanno, T., and Li, S. S.-L., Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. Biochem. Biophys. Res. Commun. 168, 677-682 (1990). 

Norum, K. R., and Gjone, E, Familial plasma licithin cholesterol acyltransferase deficiency biochemical study of a new inborn error of metabolism. Scand. J. Clin. Lab. Invest. 20, 231-243 (1967). 

Hymes J, Fleischhauer K, Wolf (1995) Biotinylation of histones by human serum biotinidase assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency. Biochem Mol Med 56 76-83... 

Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S (1990) Comparison of patients with complete and partial biotinidase deficiency biochemical studies. J Inherit Metab Dis 13 76-92... 

Lederer B, Van Hoof F, Van den Berghe G, Hers HG (1975) Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen storage disease. A study of phosphorylase kinase deficiency. Biochem J 147 23-35... 

Rembold H (1983) Pteridine catabolism. In Curtius HC, Pfleidere W, Wachter H (eds) Biochemical and Clinical Aspects of Pteridines. Walter de Gruyter, Berlin, pp 107-122 Blau N, de Klerk JBC, Thony B, Heizmann CW, Kierat L, Smeitink JAM, Duran M (1996) Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies. Biochem Mol Med 58 199-203... 

Hovnanian, A., 2004, Darier s disease from dyskeratosis to endoplasmic reticulum calcium ATPase deficiency. Biochem Biophys Res Commun, 322 1237—44. 

Lakshmi, R., Lakshmi, A.V., and Bamji, M.S., Skin wound healing in riboflavin deficiency, Biochem. Med. Metab. Biol., 42, 185, 1989. 

Today, biochemical deficiency of riboflavin is accepted in the absence of clinical signs of deficiency. Biochemical signs of deficiency include change in the amount of the vitamin which is excreted in the urine, or change in the level of activity of a red blood cell (erythrocyte) enzyme, which is known as the erythrocyte glutathione reductase. Requirements for the vitamin are defined as that amount which will prevent both clinical and biochemical signs of deficiency. 

Scott, E. M., Properties of the trace enzyme in human serum cholinesterase deficiency. Biochem. Biophys. Res. Common. 38, 902-906 (1970). 

Horwitz, A. L., Warshawsky, L., King, J., and Burns, G., Rapid degradation of steroid sulfatase in multiple sulfatase deficiency. Biochem. Biophys. Res. Commun. 135, 389-396 (1986). 

Shangari N et al., Toxicity of glyoxals-role of oxidative stress, metabolic detoxification and thiamine deficiency, Biochem. Soc. Trans., 31, 1390, 2003. 

Martini, R. and M. Murray (1994). Suppression of the constitutive microsomal cytochrome P450 2C11 in male rat liver during dietary vitamin A deficiency. Biochem. Pharmacol. 48, 1305-1309. 

T12. Tsay, G. C., and Dawson, G., Structure of the keratosulfate-like material in liver from a patient with Gui-gangliosidosis (jS-n-galactosidase deficiency). Biochem. Biophys. Res. Commun. 52, 759-766 (1973). 

Scholte, H.R. Jennekens, F.G. Bouvy, J.J. (1979) J. Neurol. Sci. 40, 39-51 Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leukocytes. Meola, G. Bresolin, N. Rimoldi, M. Velicogna, M. Fortunate, F. Scarlato, G. (1987) J. Neural. 235, 74-79 Recessive carnitine palmitoyl transferase deficiency biochemical studies in tissue cultures and platelets. 

Leshe ND, Yager KL, McNamara PD, Segal S. A mouse model of galactose-1-phosphate uridyl transferase deficiency. Biochem Mol Med 1996 59 7-12. 

Pantothenic Acid Deficiency 276 Pathology of Pantothenic Acid Deficiency Biochemical Role of Pantothenic Acid... 

D. Perrett. GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency. Biochem Pharmac. 31 941 (1982). 

Purine hypoxanthine-guanine phosphoribosyl transferase deficiency. Biochem.Med., 5 173 (1971). 

H.A. Simmonds, R.J. Levinsky, D. Perrett and D.R. Webster. Reciprocal relationship between erythrocyte ATP and deoxy ATP levels in inherited ADA deficiency. Biochem. Pharmacol, 31s 9 7 (1982)... 

Njalsson R, Carlsson K, Olin B, Carlsson B, Whitbred A, Polekhina G, Parker MW, Norgren S, Mannervik B, Board P, Larsson A (2000) Analysis of key missense mutations in patients with glutathione synthetase deficiency. Biochem. J. 349 275-279. 

Greene, H. L., Stifel, F. B., and Herman, R. H., 1972, Dietary stimulation of sucrase in a patient with sucrase-isomaltase deficiency, Biochem. Med. 6 409. 

Wenger, D. A., Tarby, T. J., and Wharton, C., 1978, Macular cherry-red spots and myoclonus with dementia Coexistent neuraminidase and P-galactosidase deficiencies, Biochem. Biophys. Res. Commun. 82 589-595. 

Blau, K. (1979), Phenylalanine hydroxylase deficiency Biochemical, physiological, and clinical aspects of phenylketonuria and related phenylalaninaemias. In Aromatic Amino Acid Hydroxylases and Mental Disease (ed. M.B.H. Youdim), John Wiley Sons Ltd., London, Chapter 3, pp. 77-139. 

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