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Iminoglycinuria — A “harmless” inborn error of metabolism? (1968)

Fraser, G. R. ; Friedmann, A. I. ; Patton, V. M. ; [et al.]

Springer

Human genetics 〈Berlin〉 6 (1968), S. 362-367

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Summary A boy with iminoglycinuria was discovered during routine urinary amino acid screening of a series of children with severe visual handicap. In addition to iminoglycinuria and blindness due to Leber's tapeto-retinal degeneration, this boy has profound perceptive deafness dating from infancy. It is concluded, on the basis of a study of previous cases reported, that the iminoglycinuria is not causally related to his blindness and deafness and may represent an essentially harmless inborn error of metabolism. The view that he suffers from three distinct autosomal recessive conditions receives some support from the fact that he may be the offspring of a mating between full sibs.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00286806

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