Inborn errors of metabolism: Garrod's legacy

Molecular Medicine

Volumn 2, Issue 3, 1996, Pages 271-273

  Bearn, Alexander G ^a  

^a ROCKEFELLER UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HOMOGENTISIC ACID; TYROSINE;

ALKAPTONURIA; AUTOSOMAL RECESSIVE INHERITANCE; CONSANGUINEOUS MARRIAGE; HUMAN; INBORN ERROR OF METABOLISM; NONHUMAN; OCHRONOSIS; PRIORITY JOURNAL; PROTEIN DIET; REVIEW;

EID: 0029813851     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03401624     Document Type: Review

References (14)

1. Garrod AE. (1899) A contribution to the study of alkaptonuria. Med.-Chir. Trans. 82: 369-394; Proc. Roy. Med. Chir. Soc. N.S. II: 13-15.
2. Garrod AE. (1899) A contribution to the study of alkaptonuria. Med.-Chir. Trans. 82: 369-394; Proc. Roy. Med. Chir. Soc. N.S. II: 13-15.
3. Garrod AE. (1901) About alkaptonuria. Lancet ii: 1484-1486; Med.-Chir. Trans. 85: 69-77.
4. Garrod AE. (1901) About alkaptonuria. Lancet ii: 1484-1486; Med.-Chir. Trans. 85: 69-77.
5. Bateson W, Saunders ER. (1901) Report to the Evolution Committee of the Royal Society. Footnote, Vol. 1, 133-134.
6. Garrod AE. (1909) Inborn errors of metabolism: The Croonian Lectures delivered before the Royal College of Physicians of London in June 1908. Frowde; Hodder and Stoughton, London, 1923.
7. Huppert CH. (1896) Rectorial address delivered 16 November 1895. Die Erhaltung der Arteigenschaften. Carl Ferdinand University Press, Prague.
8. Menon IA, Persad SD, Haberman HF, Basu PK, Norfray JF, Felix CC, Kalyanaraman B. (1991) Characterization of the pigment from homogentisic acid and urine and tissue from an alkaptonuria patient. Biochem. Cell Biol. 69: 269-273.
9. Osler W. (1904) The pigmentation of cartilages, sclerotis, and skin in alkaptonuria. Lancet 1: 10.
10. Gross O. (1914) Über den Einfluss des Bluteserums des normalen und des alkaptonurikens auf Homogentisinsäure. Biochemische Zeitschrift 61: 165-170.
11. La Du BN, Zannoni VG, Laster L, Seegmiller JE. (1958) The nature of the defect in tyrosine metabolism in alcaptonuria. J. Biol. Chem. 230:251-260.
12. Montagutelli X, Lalouette A, Coude M, Kamoun P, Forest M, Guenet JL. (1994) aku, a mutation of the mouse homolgous to human alkaptonuria, maps to chromosome 16. Genomics 19: 9-11.
13. Pollak MR, Chou YH, Cerda JJ, et al. (1993) Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat. Genet. 5: 201-204.
14. La Du BN. (1991) Alkaptonuria and ochronotic arthritis. Mol. Biol. Med. 8: 31-38.