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Ollier disease is a rare, non-hereditary disorder which is characterized by the presence of multiple enchondromas (ECs), benign cartilaginous neoplasms arising within the medulla of the bone, with an asymmetri...
Anderson's disease (AD) or chylomicron retention disease (CMRD) is a very rare hereditary lipid malabsorption syndrome. In order to discover novel mutations in the SAR1B gene and to evaluate the expression, as co...
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the...
Toxic epidermal necrolysis (TEN) and Stevens Johnson Syndrome (SJS) are severe adverse cutaneous drug reactions that predominantly involve the skin and mucous membranes. Both are rare, with TEN and SJS affecti...
The Schnitzler syndrome is a rare and underdiagnosed entity which is considered today as being a paradigm of an acquired/late onset auto-inflammatory disease. It associates a chronic urticarial skin rash, corr...
Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of canc...
The pharmacological chaperones therapy is a promising approach to cure genetic diseases. It relies on substrate competitors used at sub-inhibitory concentration which can be administered orally, reach difficul...
Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical C...
Inherited metabolic diseases (IMDs) comprise a diverse group of generally progressive genetic metabolic disorders of variable clinical presentations and severity. We have undertaken a study using microarray ge...
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE) and an intracellular accumulation of triacylglycerol (TG) droplet...
The Erratum to this article has been published in Orphanet Journal of Rare Diseases 2011 6:6
In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y+L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Al...
A severe encephalitis that associates with auto-antibodies to the NR1 subunit of the NMDA receptor (NMDA-R) was recently reported. Patients' antibodies cause a decrease of the density of NMDA-R and synaptic me...
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence...
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation....
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
This article is part of a Supplement: Volume 5 Supplement 1
Orphanet Journal of Rare Diseases