16 publication(s) trouvée(s)
Article scientifique
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
BACKGROUND: Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular …
Article scientifique
Correction to: Vascular suture line wrapping for aortoiliac anastomoses following open surgical repair of infrarenal Behçet’s aortoiliac aneurysms
Following the publication of this article [1], the authors informed us of a typographical error in the spelling of “ePET-Dacron®” …
Article scientifique
Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim …
Article scientifique
Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte
BACKGROUND: Current diagnostic tests for hereditary spherocytosis (HS) focus on the detection of hemolysis or indirectly assessing defects of membrane …
Article scientifique
Vascular suture line wrapping for Aortoiliac anastomoses following open surgical repair of Infrarenal Behçet’s Aortoiliac aneurysms
BACKGROUND: This study was conducted to evaluate our local experiences of adjunctive mechanical prosthetic wrapping for aortoiliac vascular anastomoses as …
Article scientifique
Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis
BACKGROUND: While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence …
Article scientifique
Target achievement and cardiovascular event rates with Lomitapide in homozygous Familial Hypercholesterolaemia
BACKGROUND: Homozygous familial hypercholesterolaemia (HoFH) is characterized by a markedly increased risk of premature cardiovascular (CV) events and cardiac death. …
Article scientifique
MicroRNAs are inappropriate for characterising hearing impairment in mitochondrial disorders
International audience
Article scientifique
Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins)
Epidermal necrolysis (EN) encompasses Stevens-Johnson syndrome (SJS, < 10% of the skin affected), Lyell syndrome (toxic epidermal necrolysis, TEN, with …
Article scientifique
Do investors value the FDA orphan drug designation?
BACKGROUND: The Orphan Drug Act is an important piece of legislation that uses financial incentives to encourage the development of …
Article scientifique
Xeroderma pigmentosum-Cockayne syndrome complex
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information …
Article scientifique
An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development
BACKGROUND: With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their …
Article scientifique
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
BACKGROUND: Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver …
Article scientifique
Yellow nail syndrome: a review
Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of …
Article scientifique
Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine’s curse syndrome)
The purpose of this study was to describe the sleep structure (especially slow wave sleep) in adults with congenital central …
Article scientifique
TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC …