Bile acid synthesis anomalies, bile acid metabolism anomalies
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Group of diseases
Articles
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biliary acid metabolism anomalies
14 December 2004 -
hepatic vascular malformations
24 November 2003liver vascular malformations
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cutaneous tumors
5 June 2003skin tumours , cutaneous neoplasms
Localization
epidermal tumors (tumors of the epidermis)
dermal tumors (tumors of the dermis)
cutaneous adnexal tumors
hypodermal tumors (tumors of the hypodermis)
Appearance
cutaneous small cell tumors
cutaneous clear cell tumors
cutaneous large cell tumors
cutaneous fusiform cell tumors
cutaneous basaloid cell tumors
Classification
cutaneous epithelial tumors
epidermal tumors (tumors of the epidermis )
cutaneous squamous cell (...) -
polycystic kidney diseases
24 October 2003PKDs, polycystic renal diseases, renal polycystosis
Images
Autosomal dominant polycystic Kidney Disease (ADPKD)
https://twitter.com/yasminelys/status/745183710237048832
Digital cases (Digital slides)
HPC4 : autosomal dominant polycystic kidney disease (ADPKD)
UI:763 : autosomal dominant polycystic kidney disease (ADPKD)
Classification
autosomal dominant polycystic kidney disease (ADPKD)
mutations in PKD1 (MIM.601313) (16p13) (ADPKD1)
mutations in PKD2 (MIM.173910) (...) -
blood cells disorders
31 May 2004Links
The Crookston collection -
mature B-cell leukemias
8 December 2003 -
autoimmune diseases
3 July 2003auto-immune diseases; autoimmunity
Definition: Immune reactions against self-antigens-autoimmunity-are an important cause of certain diseases in humans, estimated to affect at least 1% to 2% of the US population.
A growing number of diseases have been attributed to autoimmunity, but in many the evidence is not firm. Autoantibodies can be found in the serum of apparently normal individuals, particularly in older age groups.
Furthermore, innocuous autoantibodies are also formed after (...) -
oral myasis
2 March 2004Etiology
Chrysomya bezziana (#14660813#) -
congenital eye defects
25 November 2003References
Graw J. The genetic and molecular basis of congenital eye defects. Nat Rev Genet. 2003 Nov;4(11):876-88. PMID: #14634635# -
retinal dystrophies
25 November 2003Exemples
Doyne honeycomb retinal dystrophy (malattia leventinese) (MIM.126600)
References
Gregory-Evans K, Bhattacharya SS. Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies. Trends Genet. 1998 Mar;14(3):103-8. PMID: #9540407#
Chapple JP, Grayson C, Hardcastle AJ, Saliba RS, van der Spuy J, Cheetham ME. Unfolding retinal dystrophies: a role for molecular chaperones? Trends Mol Med. 2001 Sep;7(9):414-21. PMID: (...)