Latent cystathioninuria.

نویسندگان

چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Deficiencies of cystathionase and homoserine dehydratase activities in cystathioninuria.

17 Georgiev, G. P., 0. P. Samarina, M. I. Lerman, M. N. Smirnov, and A. N. Severtzov, Nature, 200, 1291 (1963). 8Greenman, D. L., W. D. Wicks, and F. T. Kenney, J. Biol. Chem., 240, 4420 (1965). 19 Paigen, K., J. Theor. Bwl., 3, 268 (1962). 20 Zubay, G., and M; H. F. Wilkins, J. Mol. Biol., 4, 444 (1962). 21 Zubay, G., in The Nucleohistones, ed. J. Bonner and P. Ts'o (San Francisco: Holden-Day,...

متن کامل

Cystathionase deficiency in fibroblast cultures from a patient with primary cystathioninuria.

Familial cystathioninuria is a rare, hereditary amino-acid disorder with an autosomal, recessive pattern of inheritance (Harris, Penrose, and Thomas, 1959; Frimpter, 1972). There is no consistent clinical picture associated with the condition but rather a mixture of mental, neurological, and somatic disorders and indeed healthy and mentally normal children have also been described (Perry et al,...

متن کامل

Cystathioninuria from pyridoxine deficiency complicating treatment of hypercalcaemia in a cretin.

Rats with vitamin B6 deficiency excrete cystathionine in the urine (Hope, 1957). Cystathionine is an amino acid in the pathway of synthesis of cysteine from methionine (Fig. 1). A methyl group is removed from methionine to produce homocysteine, which condenses with serine to yield cystathionine. This condensation is catalysed by a transulphurase enzyme requiring pyridoxal phosphate as a co-enzy...

متن کامل

Renal clearance of cystathionine in homozygous and heterozygous cystathioninuria, cystinuria, and the normal state.

Cystathionine is more readily cleared from the plasma than other amino acids. This is because the amino acid has a very low tubular maximum (Tm), in the order of 1 mumole per minute per 1.73 square meters body surface area (BSA). No essential differences in the reabsorption of cystathionine were observed in four normal subjects, two patients with homozygous cystathioninuria, one patient with he...

متن کامل

Management of Latent Tuberculosis in Iran

Although screening, finding and treatment of active cases of tuberculosis is very important for control of disease in the community, for reaching to the goals planed by world health organization and approaching to elimination of the disease, it is necessary to find and treat persons with latent infection. Concerning to high prevalence of latent TB in developing countries and resource limitation...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1967

ISSN: 1468-6244

DOI: 10.1136/jmg.4.4.260