Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I's Atlas of Inherited Metabolic Diseases 3E PDF

By Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I

ISBN-10: 1444112252

ISBN-13: 9781444112252

ISBN-10: 1444149482

ISBN-13: 9781444149487

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Extra info for Atlas of Inherited Metabolic Diseases 3E

Sample text

Isotope dilution analysis of methylcitric acid in amniotic fluid for the prenatal diagnosis of propionic and methylmalonic acidemia. Clin Chim Acta 1980; 107: 175. 64. Trefz FK, Schmidt H, Tauscher B et al. Improved prenatal diagnosis of methylmalonic acidemia: mass fragmentography of methylmalonic acid in amniotic fluid and maternal urine. Eur J Pediatr 1981; 137: 261. 65. Zinn AB, Hine DG, Mahoney MJ, Tanaka K. The stable isotope dilution method for measurement of methylmalonic acid: a highly accurate approach to the prenatal diagnosis of methylmalonic acidemia.

Mayatepek E, Hoffmann GF, Baumgartner R et al. Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease? Eur J Pediatr 1996; 155: 398. 59. Dudley J, Allen J, Tizard J, McGraw M. Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis. Pediatr Nephrol 1998; 12: 564. 60. Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE. Genetic com­plementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

59. Dudley J, Allen J, Tizard J, McGraw M. Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis. Pediatr Nephrol 1998; 12: 564. 60. Gravel RA, Mahoney MJ, Ruddle FH, Rosenberg LE. Genetic com­plementation in heterokaryons of human fibroblasts defective in cobalamin metabolism. Proc Natl Acad Sci USA 1975; 72: 3181. 61. Willard HF, Mellman IS, Rosenberg LE. Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

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Atlas of Inherited Metabolic Diseases 3E by Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I


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