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pro vyhledávání: '"Fringer, J M"'
Autor:
Shih, V E, Fringer, J M, Mandell, R, Kraus, J P, Berry, G T, Heidenreich, R A, Korson, M S, Levy, H L, Ramesh, V
Cystathionine beta-synthase (CBS) deficiency is an autosomal recessive disorder characterized by homocystinuria and multisystem clinical disease. Patients responsive to pyridoxine usually have a milder clinical phenotype than do nonresponsive patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e202a30d8b8a835567ee74bb71bc8586
https://europepmc.org/articles/PMC1801250/
https://europepmc.org/articles/PMC1801250/
Autor:
Shih VE; Neurology Service, Massachusetts General Hospital, Boston 02129, USA., Fringer JM, Mandell R, Kraus JP, Berry GT, Heidenreich RA, Korson MS, Levy HL, Ramesh V
Publikováno v:
American journal of human genetics [Am J Hum Genet] 1995 Jul; Vol. 57 (1), pp. 34-9.