Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.
作者信息
MACKENZIE D Y, WOOLF L I
出版信息
Br Med J. 1959 Jan 10;1(5114):90-1. doi: 10.1136/bmj.1.5114.90.
Abstract
摘要
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Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.
Br Med J. 1959 Jan 10;1(5114):90-1. doi: 10.1136/bmj.1.5114.90.
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Maple syrup urine disease.
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[Maple syrup urine disease].
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[Disorders of leucine, isoleucine and valine metabolism (maple syrup urine disease)].
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The need of essential amino acids in children. An evaluation based on the intake of phenylalanine, tyrosine, leucine, isoleucine, and valine in children with phenylketonuria, tyrosine amino transferase defect, and maple syrup urine disease.
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LATE MANIFESTING VARIANT OF BRANCHED-CHAIN KETOACIDURIA (MAPLE SYRUP URINE DISEASE).
Acta Paediatr (Stockh). 1964 Jul;53:356-64. doi: 10.1111/j.1651-2227.1964.tb07789.x.
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An inborn error of metabolism with the urinary excretion of alpha-hydroxy-butyric acid and phenylpyruvic acid.
Arch Dis Child. 1958 Apr;33(168):109-13. doi: 10.1136/adc.33.168.109.
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The dietary treatment of phenylketonuria.
Arch Dis Child. 1958 Feb;33(167):31-45. doi: 10.1136/adc.33.167.31.
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Familial hypoglycemia precipitated by amino acids.
J Clin Invest. 1956 Apr;35(4):411-22. doi: 10.1172/JCI103292.
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Paper chromatography of urinary indoles.
Lancet. 1955 Nov 12;269(6898):1009-11. doi: 10.1016/s0140-6736(55)93432-2.
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A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.
Pediatrics. 1954 Nov;14(5):462-7.
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