12
Views
3
CrossRef citations to date
0
Altmetric
Original Article

Bardet—Biedl Syndrome and Cystinuria

, &
Pages 587-590 | Published online: 07 Jul 2009

References

  • McKusick VA. Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Pheno-types9th ed. John Hopkins University Press, Baltimore 1990; 1059–1060
  • Ammann F. Investigations cliniques sur le syndrome de Bardet-Biedl en Suisse. J Genet Hum 1970; 18: 1–310, Suppl
  • Laurence J Z, Moon RC. Four cases of retinitis pigmentosa occurring in the same family, and accompanied by general imperfections of development. Ophthalmic Rev (old series) 1866; 2: 32–41
  • Bardet G. Sur un syndrome d'obésité congenitale avec polydac-tylie et réunite pigmentaire (contribution à I'étude des formes cliniques de I'obésité hypophysaire). Thesis, University of Paris, Paris 1920
  • Discussion of: Biedl A, Ein Geschwisterpaar mit adiposo-genitaler Dystrophic. Dtsch Med Wochenschr 1922; 48: 1630
  • Schachat A P, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 1982; 100: 285–288
  • Green J S, Parfrey P S, Harnett JD, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 1989; 321: 1002–1009
  • Harnett J D, Green J S, Cramer BC, et al. The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med 1988; 319: 615–618
  • Fralick R A, Leichter H E, Sheth K. J. Early diagnosis of Bardet-Biedl syndrome. Pediatr Nephrol 1990; 4: 264–265
  • Crawhall J C, Purkiss P, Watts R WE, Young EP. The excretion of amino acids by cystinuric patients and their relatives. Ann Hum Genet 1969; 33: 149
  • Roth K, Segal S. S. Tubular aspects of hereditary and developmental disorders of the kidney. Nephrology, J Hamburger, J Crosnier, JP GrÜNfeld. Wiley, New York 1979; 945–975, chap. 65
  • Segal S, Thier SO. Cystinuria. The Metabolic Basis of Inherited Disease6th ed, CR Scriver, AL Beaudet, WS. Sly, D Valle. McGraw-Hill, New York 1989; 2479–2495, chap 99
  • Meloni C R, Canary JJ. Cystinuria with hyperuricemia. J Am Med Assoc 1967; 200: 169
  • Dent C E, Harris H. The genetics of cystinuria. Ann Hum Genet 1951; 16: 60
  • Brooks WDW, Heasman MA., Lovell R RH. Retinitis pigmentosa associated with cystinuria: two uncommon inherited conditions occurring in a family. Lancet 1949; i: 1096–1098
  • Hurwitz U, Carson N AJ, Allen IV, et al. Clinical, biochemical and histopathological findings in a family with muscular dystrophy. Brain 1967; 90: 799
  • Clara R, Lowenthal A. Familiar and congenital lysine-cystinuria with benign myopathy and dwarfism. J Neurol Sci 1966; 3: 434
  • Tanguay R B, Galindo J. Cystinuria associated with mongolism and identification of an abnormal pyrrolidine compound in urine. Am J Clin Pathol 1966; 46: 442
  • Gross J B, Ulrich J A, Jones JD. Urinary excretion of amino acids in a kindred with hereditary pancreatitis and aminoaciduria. Gastroenterology 1964; 47: 41
  • Purkiss P, Chalmers R A, Borud O. Combined iminoglycinuria and cystine and dibasic aminoaciduria in patients with propionic acidaemia and 3-methylcrotonylglycinuria. J Inherited Metab Dis 1980; 3: 85
  • Delvalle J, Merinero A. B., Garcia MJ, et al. Biochemical finding in a patient with neonatal methylmalonic acidaemia. J Inherited Metab Dis 1982; 5: 53
  • Levy HL. Genetic screening. Advances in Human Genetics, H Harris, K Hirschhorn. Plenum, New York 1973; vol. 4: 1
  • Berry HK. Cystinuria in mentally retarded siblings with atypical osteogenesis imperfecta. Am J Dis Child 1959; 97: 196
  • Smith A, Procopis PG. Cystinuria and its relationship to mental retardation. Med J Aust 1975; 2: 932
  • Sturman J A, Gaull G, Raths N CR. Absence of cystathionase in human fetal liver: is cystine essential?. Science 1970; 169: 74
  • Hwang S M, Weiss S, Segal S. Uptake of L-[35S]cystine by isolated rat brain capillaries. J Neurochem 1980; 35: 417

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.