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Chronic inflammatory demyelinating polyradiculoneuropathy ( CIDP ) is a disease causing progressive or relapsing and remitting weakness and numbness. It is probably due to an autoimmune process. Immu ...


Lipodystrophy can be acquired or inherited and results in partially or complete loss of adipose tissue. In the most severe form, congenital generalized lipodystrophy ( CGL ) or Berardinelli–Seip conge ...


Hypersensitivity pneumonitis ( HP ), in Europe called extrinsic or exogenous allergic alveolitis ( EAA ), is a complex syndrome incited by numerous inhaled agents including agricultural dusts, bio-aer ...


Mucopolysaccharidosis type I ( MPS I ) is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase alpha-L-iduronidase ( IDUA ). The progressive accumulation ...


The aim of a study was to elucidate the genetic basis of a novel neurodegenerative disorder in an Old Order Amish pedigree by combining homozygosity mapping with exome sequencing.Researchers have iden ...


Neurofibromatosis 1 ( NF1 ) is the most common autosomal dominant disorder, with an incidence of 1 in 2,500-3,300 live births. NF1 is associated with significant morbidity and mortality because of com ...


Idiopathic pulmonary fibrosis ( IPF ) is a devastating disease that probably involves several genetic loci. Several rare genetic variants and one common single nucleotide polymorphism ( SNP ) of MUC5B ...


To this date, various treatments have been administered to Fahr’s patients in an attempt to achieve remission or at least stabilization. Several approaches based on diverse biological theories and sma ...


VEGF-D is a lymphangiogenic growth factor that has a key role in tumour metastasis. Serum VEGF-D concentrations are increased in most patients with lymphangioleiomyomatosis, a rare neoplasm associated ...


About 40% of responders to treatment for chronic inflammatory demyelinating polyradiculoneuropathy ( CIDP ) remain treatment dependent and have a relapse if treatment is interrupted. The aim of a s ...


Angiomyolipomas are slow-growing tumours associated with constitutive activation of mammalian target of Rapamycin ( mTOR ), and are common in patients with tuberous sclerosis complex and sporadic lymp ...


Interleukin-36 receptor antagonist deficiency ( DITRA ) is a hereditary auto-inflammatory disease characterized by repeated flares of generalized pustular psoriasis ( GPP ). The flares include sudden ...


Severe hypertriglyceridemia ( fasting triglycerides above 1000 mg/dl ) is a common condition that occurs in 1:600 individuals. Clinical features include hepatomegaly, eruptive xantomatosis, lipemia re ...


Enzyme replacement therapy ( ERT ) is the standard therapy for Fabry disease. Enzyme replacement therapy partially cleared microvascular deposits of GL-3 from the heart, kidney and skin of most Fabry ...


Oculomotor apraxia ( OMA ) associated with cerebellar ataxia was first noted by Boder and Sedgwick in patients with ataxia-telangiectasia ( A-T ). This abnormality of eye movements consists of an impa ...