Title: The potential investment impact of improved access to accelerated approval on the development of treatments for low prevalence rare diseases.
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Title: Early initiation of enzyme replacement therapy improves metabolic correction in the brain tissue of aspartylglycosaminuria mice.
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Title: Bilateral pulvinar signal intensity decrease on T2-weighted images in patients with aspartylglucosaminuria.
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Title: The structural basis of the difference in sensitivity for PNGase F in the de-N-glycosylation of the native bovine pancreatic ribonucleases B and BS.
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Title: Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study.
Journal: Journal of inherited metabolic disease 20061001
Title: Reduction in head size in patients with aspartylglucosaminuria.
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Title: Massive accumulation of Man2GlcNAc2-Asn in nonneuronal tissues of glycosylasparaginase-deficient mice and its removal by enzyme replacement therapy.
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Title: Five-year follow-up of two siblings with aspartylglucosaminuria undergoing allogeneic stem-cell transplantation from unrelated donors.
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Title: Startle epilepsy complicating aspartylglucosaminuria.
Journal: Brain & development 20040301
Title: Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
Journal: The British journal of dermatology 20021001
Title: Glycosylasparaginase activity requires the alpha-carboxyl group, but not the alpha-amino group, on N(4)-(2-Acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine.
Journal: Archives of biochemistry and biophysics 20010715
Title: Human leukocyte glycosylasparaginase: cell-to-cell transfer and properties in correction of aspartylglycosaminuria.
Journal: FEBS letters 20010615
Title: Synthesis of N4-(2-acetamido-2-deoxy-beta-D-glucopyranosyl)-L-asparagine analogues. n-Butyramide, 3-chloropropionamide, 3-aminopropionamide, and isovaleramide analogues.
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Title: Co-existence of lysosomal storage diseases in a consanguineous family.
Journal: Child: care, health and development 20010301
Title: Glycosylasparaginase inhibition studies: competitive inhibitors, transition state mimics, noncompetitive inhibitors.
Journal: Journal of enzyme inhibition 20010101