Sanfilippo's syndrome

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Sanfilippo's syndrome

[san·fə′lip·ōz ‚sin‚drōm]
(medicine)
A hereditary metabolic disorder, transmitted as an autosomal recessive, characterized by excessive amounts of heparitin sulfate in the urine, and manifested by minor skeletal changes and slight hepatomegaly.
References in periodicals archive ?
Abeona's lead programs include EB-101 (gene-corrected skin grafts) for recessive dystrophic epidermolysis bullosa (RDEB), ABO-102 (AAV-SGSH), an adeno-associated virus (AAV) based gene therapy for Sanfilippo syndrome type A (MPS IIIA) and ABO-101 (AAV-NAGLU), an adeno-associated virus (AAV) based gene therapy for Sanfilippo syndrome type B (MPS IIIB).
a leading clinical-stage biopharmaceutical company focused on developing novel cell and gene therapies for life-threatening rare genetic diseases, today announced updated clinical data from the ongoing Phase 1/2 trial for ABO-102 (AAV-SGSH), the companys investigational gene therapy for the treatment of Sanfilippo syndrome Type A (MPS IIIA), a rare autosomal-recessive lysosomal storage disease.
Abeona Therapeutics announced updated clinical data from the ongoing Phase 1/2 trial for ABO-102, the company's investigational gene therapy for the treatment of Sanfilippo syndrome Type A, or MPS IIIA, a rare autosomal-recessive lysosomal storage disease.
Isla suffers from Sanfilippo Syndrome, a form of MPS that manifests itself in developmental delay.
Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation specific DNA test are described.
Little Hero Sophia Scott, the only youngster in Scotland with Sanfilippo syndrome, a rare and incurable genetic illness known as childhood Alzheimer's that means she may not live beyond her early teenage years, proudly showed Nicola her new outfit for the day.
United States-based Abeona Therapeutics has enrolled the first high-dose patient in the ongoing Phase 1/2 trial for ABO-102 (AAV-SGSH) in Sanfilippo Syndrome Type A, it was reported yesterday.
We are also planning to collect all cases of Sanfilippo syndrome in our area to lock for its prevalence and also to address the importance of prenatal investigation for purpose of early intervention.
Eliza, 4, was diagnosed in 2013 with the Sanfilippo syndrome that will make Eliza's body and mind deteriorate eventually resulting to the inability to speak or walk.
He participated in a 2 year medical research study at the University of Minnesota to get medicine approved for his rare illness Sanfilippo Syndrome (MPS IIIa).
Four-year-old Tillie Mae Mawdsley was diagnosed with a genetic condition called Sanfilippo syndrome, also known as MPS 3 type A, two years ago.