𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Peroxisomal disorders in man

✍ Scribed by Professor; Dr Adelbert A. Roscher; Boris Rolinski

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
640 KB
Volume
10
Category
Article
ISSN
0263-6484

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Peroxisomal disorders
Peroxisomal disorders
✍ Hugo W. Moser πŸ“‚ Article πŸ“… 1991 πŸ› Elsevier Science 🌐 English βš– 885 KB

Peroxisomal disorders occur more frequently and have a wider range of clinical manifestations than has been realized in the past. Precise diagnosis can be achieved with non-invasive biochemical assays and all can be diagnosed prenatally, thus providing the option of genetic counseling. Specific ther

Ξ±-Synuclein abnormalities in mouse model
Ξ±-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders
✍ Eugenia Yakunin; Ann Moser; Virginie Loeb; Ann Saada; Phyllis Faust; Denis I. Cr πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 330 KB

## Abstract α‐Synuclein (Ξ±S) is a presynaptic protein implicated in Parkinson's disease (PD). Growing evidence implicates mitochondrial dysfunction, oxidative stress, and Ξ±S–lipid interactions in the gradual accumulation of Ξ±S in pathogenic forms and its deposition in Lewy bodies, the pathological

X-linked dominant chondrodysplasia punct
X-linked dominant chondrodysplasia punctata: A peroxisomal disorder?
✍ Wilson, Callum J.; Aftimos, Salim πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 5 KB πŸ‘ 2 views

X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review t