1. Perry TL, Hansen S, Tischler B, Bunting R,
Berry K. Carnosinemia. A new metabolic disorder associated with
neurologic disease and mental defect. N Engl J Med. 1967;277(23):1219-1227.
2. Cohen M, Hartlage PL, Krawiecki N, Roesel RA, Carter AL,
Hommes FA. Serum carnosinase deficiency: a non-disabling phenotype? J Ment
Defic Res. 1985;29(Pt 4):383-389.
3. Lenney JF, Peppers SC, Kucera CM, Sjaastad O. Homocarnosinosis:
lack of serum carnosinase is the defect probably responsible for
elevated brain and CSF homocarnosine. Clin Chim Acta. 1983;132(2):157-165.
4. Ledoux P, Scriver CR, Hechtman P. Expression and molecular
analysis of mutations in prolidase deficiency. Am J Hum
Genet. 1996;59(5): 1035-1039.
5. Lam WK, Cleary MA, Wraith JE, Walter JH. Histidinaemia: a
benign metabolic disorder. Arch Dis Child. 1996;74(4):343-346.
6. Kalafatic Z, Lipovac K, Jezerinac Z, Juretic D, Dumic M,
Zurga B, et al. A liver urocanase deficiency. Metabolism.
1980;29(11):1013-1019.
7. Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf
M, et al. Mutations in ACY1, the gene encoding aminoacylase 1, cause
a novel inborn error of metabolism. Am J Hum Genet.
2006;78(3):401-409.
8. Matalon R, Michals K, Kaul R. Canavan disease: from spongy
degeneration to molecular analysis. J Pediatr.
1995;127(4):511-517.
9. Lee CW, Yu JS, Turner BB, Murray KE. Trimethylaminuria: fishy
odors in children. N Engl J Med. 1976;295(17):937-938.
10. Treacy EP, Akerman BR, Chow LM, Youil R, Bibeau C, Lin J,
et al. Mutations of the flavin-containing monooxygenase gene (FMO3)
cause trimethylaminuria, a defect in detoxication. Hum Mol
Genet. 1998;7(5):839-845.
11. Moolenaar SH, Poggi-Bach J, Engelke UF, Corstiaensen JM,
Heerschap A, de Jong JG, et al. Defect in dimethylglycine dehydrogenase,
a new inborn error of metabolism: NMR spectroscopy study. Clin
Chem. 1999;45(4):459-464.
12. Binzak BA, Wevers RA, Moolenaar SH, Lee YM, Hwu WL, Poggi-Bach
J, et al. Cloning of dimethylglycine dehydrogenase and a new human
inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am
J Hum Genet. 2001;68(4):839-847.