Get 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

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Inborn errors of cobalamin metabolism. ). Chemistry and Biology of B12. New York: Wiley, 1999: 367. 21. Lindblad B, Lindblad BS, Olin P et al. Methylmalonic acidemia: a disorder associated with acidosis, hyperglycinemia and hyperlactatemia. Acta Paediatr Scand 1968; 57: 417. 22. Morrow G, Barness LA, Auerbach VH et al. Observations on the coexistence of methylmalonic acidemia and glycinemia. J Pediatr 1969; 74: 680. 23. Nyhan WL, Fawcett N, Ando T et al. Response to dietary therapy in B12 unresponsive methylmalonic acidemia.

Am J Neuroradiol 1991; 12: 410. Bousounis DP. Methylmalonic aciduria resulting in globus pallidus necrosis. Ann Neurol 1988; 24: 302. Burlina AP, Manara R, Calderone M et al. Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria. J Inherit Metab Dis 2003; 26: 417. Nyhan WL, Wulfeck, BB, Tallal P, Marsden DL. Metabolic correlates of learning disability. ). Research in Infant Assessment. White Plains, NY: March of Dimes Birth Defects Foundation, 1989 (Birth Defects 25: 153).

Transient thrombocytopenia has been observed in infancy. Neutropenia is a regular occurrence except in the case of successful treatment and reduction in the accumulation of methylmalonic acid in body fluids. Anemia may occur, especially in the first month of life. Recurrent infections are common. Chronic moniliasis is highly relevant to metabolic control. High levels of methylmalonate and other inter­ mediates that accumulate when patients are out of control inhibit the maturation of hematopoietic cells and also of T cells, so the T-cell number is low.

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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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