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MALADIE LIGNAC-FANCONI [1 record]

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Record 1 2013-07-29

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
DEF

A semirecessive autosomal hereditary disorder under the control of more than one locus involving up to 100-fold amounts of cystine in the cells, in the lysosomes.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
DEF

Affection congénitale caractérisée par un dépôt de cystine cristallisée dans les tissus comme le foie, le rein, la rate, la moelle osseuse, le système histiocytes-macrophages, etcetera.

Spanish

Campo(s) temático(s)
  • Enfermedades humanas varias
  • Genética
DEF

Enfermedad hereditaria que se transmite en forma autosómica recesiva, caracterizada por un trastorno de metabolismo de la cistina, la cual se deposita en los tejidos (sistema reticuloendotelial del hígado, del bazo, de los pulmones, de los ganglios linfáticos).

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