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The ABO-101 therapy involves a single intravenous injection of AAV gene therapy for subjects with MPS IIIB, a rare autosomal recessive disease causing neurocognitive decline, speech and mobility loss, and premature death.
Triple A (Allgrove) syndrome, an autosomal recessive disease is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure with progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation.
Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital abnormalities, bone marrow (BM) failure, and increased risk for malignancy.
GM1 is an extremely severe, autosomal recessive disease caused by a mutation in the GLB1 gene encoding for the lysosomal acid beta-balactosidase ([sz]gal) enzyme.
SMA is an autosomal recessive disease similar to ALS, but it affects children.
The study of familial cases of indicates the characteristic of autosomal recessive disease.
Cystic fibrosis is the most lethal autosomal recessive disease among Caucasian people, with approximately incidence of 1/2500 live birth.
A challenge of the expanded panels is that as many as one in four individuals who are screened will be identified as a carrier of at least one autosomal recessive disease.
Epidermolysis bullosa, pyloric atresia, aplasia cutis congenita: histopathological delineation of an autosomal recessive disease.
A potential autosomal recessive disease may be caused by an excessively long ROH.
Juvenile hyaline fibromatosis is a rare, autosomal recessive disease.

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