The heterozygous and homozygous manifestation of certain metabolic disorders; chronic porphyria, cystinosis, Niemann-Pick disease.
D003553:Cystine / Q000378:metabolism*; D004392:Dwarfism; D040941:Heredity; D008064:Lipidoses / Q000235:genetics*; D008659:Metabolic Diseases / Q000235:genetics*; D011164:Porphyrias / Q000235:genetics*
D003553:Cystine
CYSTINE/metabolism; DWARFISM; LIPOIDOSIS/heredity; METABOLIC DISEASES/heredity; PORPHYRIA/heredity
La manifestation hétérozygote et homozygote de certains troubles du métabolisme; porphyrie chronique, cystinose, maladie de Niemann-Pick.