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A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.

Achondrogenesis type I is a perinatally lethal, short-limb chondrodysplasia. Two types, IA and IB, have been distinguished by radiographic and histological criteria; both types appear to be inherited as autosomal recessive traits. The underlying molecular defects are not known, but histochemical stu...

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Detalhes bibliográficos
Autor principal: Superti-Furga, A.
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918434/
https://ncbi.nlm.nih.gov/pubmed/7977372
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