maple-syrup-urine disease
English
Noun
maple-syrup-urine disease (uncountable)
- Alternative form of maple syrup urine disease.
- 1962, The Lancet, page 26:
- An abnormality of aminoacid metabolism in maple-syrup-urine disease was first described by Westall et al.
- 1975, Gerald E. Gaull; Harris H. Tallan; Abel Lajtha; David K. Rassin, “Pathogenesis of Brain Dysfunction in Inborn Errors of Amino Acid Metabolism”, in Gerald E. Gaull, editor, Biology of Brain Dysfunction, volume 3, New York, N.Y.; London: Plenum Press, →ISBN, section VI (Effects of Metabolic Sequelae on Synthesis of Lipids and Myelin), page 108:
- Possible changes in myelin are not reflected in changes in total phospholipids, which are normal in phenylketonuria and maple-syrup-urine disease, and in hyperphenylalaninemic rat brain.
- 1984, William L. Nyhan, Abnormalities in Amino Acid Metabolism in Clinical Medicine, →ISBN, page 34:
- Chuang DT, Ku LS, Cox RP: Biochemical basis of thiamin-responsive maple-syrup-urine disease. Clin Res 30: 556A, 1982.
- 1988 April 19, Peter H. Gott, “Rare disease produces swelling”, in The Evening Sun, volume 152, number 31, page B—2:
- However, because of the rarity of maple-syrup-urine disease, I doubt that mass screening will be adopted in the near future.
- 2007, James J. Riviello, Jr., “Pediatric EEG Abnormalities”, in Andrew S. Blum and Seward B. Rutkove, editors, The Clinical Neurophysiology Primer, Totowa, N.J.: Humana Press, →ISBN, section II (Electroencephalography), page 180:
- For example, a “comb-like” central rhythm has been observed in neonates with maple-syrup-urine disease, and bifrontal slow spike-and-wave discharges have been reported in the ring 20 chromosome syndrome.
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