Page last updated: 2024-08-25

emopamil and Chondrodysplasia Punctata

emopamil has been researched along with Chondrodysplasia Punctata in 1 studies

*Chondrodysplasia Punctata: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form. [MeSH]

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Abe, R; Hasegawa, A; Hayashi, R; Shimomura, Y; Shinkuma, S1

Other Studies

1 other study(ies) available for emopamil and Chondrodysplasia Punctata

ArticleYear
Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.
    Acta dermato-venereologica, 2021, Sep-15, Volume: 101, Issue:9

    Topics: Adult; Carrier Proteins; Chondrodysplasia Punctata; Female; Genes, Dominant; Humans; Mutation; Verapamil

2021