[Heterozygotic and homozygotic manifestation of certain metabolic disorders: chronic porphyria, cystinosis, Niemann-Pick disease].
D003554:Cystinosis; D040941:Heredity; D006579:Heterozygote; D006801:Humans; D008064:Lipidoses; D008659:Metabolic Diseases / Q000235:genetics*; D009542:Niemann-Pick Diseases; D011164:Porphyrias / Q000235:genetics*
LIPOIDOSIS/manifestations; METABOLIC DISEASES/heredity; PORPHYRIA/heredity
La manifestation hétérozygote et homozygote de certains troubles du métabolisme: porphyrie chronique, cystinose, maladie de Niemann-Pick.