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Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.
Gentner B, Tucci F, Galimberti S, Fumagalli F, De Pellegrin M, Silvani P, Camesasca C, Pontesilli S, Darin S, Ciotti F, Sarzana M, Consiglieri G, Filisetti C, Forni G, Passerini L, Tomasoni D, Cesana D, Calabria A, Spinozzi G, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Miglietta S, Zonari E, Cheruku PS, Forni C, Facchini M, Corti A, Gabaldo M, Zancan S, Gasperini S, Rovelli A, Boelens JJ, Jones SA, Wynn R, Baldoli C, Montini E, Gregori S, Ciceri F, Valsecchi MG, la Marca G, Parini R, Naldini L, Aiuti A, Bernardo ME; MPSI Study Group. Gentner B, et al. N Engl J Med. 2021 Nov 18;385(21):1929-1940. doi: 10.1056/NEJMoa2106596. N Engl J Med. 2021. PMID: 34788506 Clinical Trial.
BACKGROUND: Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis type I, Hurler variant [MPSIH]). However, this treatment is only partially curative and is associated with complications. ...
BACKGROUND: Allogeneic hematopoietic stem-cell transplantation is the standard of care for Hurler syndrome (mucopolysaccharidosis …
Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology.
Hampe CS, Eisengart JB, Lund TC, Orchard PJ, Swietlicka M, Wesley J, McIvor RS. Hampe CS, et al. Cells. 2020 Aug 5;9(8):1838. doi: 10.3390/cells9081838. Cells. 2020. PMID: 32764324 Free PMC article. Review.
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzyme alpha-L-iduronidase, resulting in accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in organs and tissues. ...
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive inherited disease, caused by deficiency of the enzym …
Newborn screening of mucopolysaccharidosis type I.
Burlina AB, Gragnaniello V. Burlina AB, et al. Crit Rev Clin Lab Sci. 2022 Jun;59(4):257-277. doi: 10.1080/10408363.2021.2021846. Epub 2022 Jan 17. Crit Rev Clin Lab Sci. 2022. PMID: 35037566
Mucopolysaccharidosis type I (MPS I), a lysosomal storage disease caused by a deficiency of alpha-L-iduronidase, leads to storage of the glycosaminoglycans, dermatan sulfate and heparan sulfate. ...
Mucopolysaccharidosis type I (MPS I), a lysosomal storage disease caused by a deficiency of alpha-L-iduronidase, leads …
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.
Hampe CS, Wesley J, Lund TC, Orchard PJ, Polgreen LE, Eisengart JB, McLoon LK, Cureoglu S, Schachern P, McIvor RS. Hampe CS, et al. Biomolecules. 2021 Jan 29;11(2):189. doi: 10.3390/biom11020189. Biomolecules. 2021. PMID: 33572941 Free PMC article. Review.
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the enzyme alpha-L-iduronidase (IDUA). ...
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease, caused by a deficiency of the enzyme alpha-L-iduronidase ( …
Mucopolysaccharidoses type I gene therapy.
Hurt SC, Dickson PI, Curiel DT. Hurt SC, et al. J Inherit Metab Dis. 2021 Sep;44(5):1088-1098. doi: 10.1002/jimd.12414. Epub 2021 Jul 9. J Inherit Metab Dis. 2021. PMID: 34189746 Free PMC article. Review.
Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I-A Mini-Review.
Zapolnik P, Pyrkosz A. Zapolnik P, et al. Int J Mol Sci. 2022 Apr 26;23(9):4785. doi: 10.3390/ijms23094785. Int J Mol Sci. 2022. PMID: 35563175 Free PMC article. Review.
Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans' abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. ...This article briefly presents the basics of nanoemulsions and …
Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans' abnormal metabolism leads …
A few challenges in mucopolysaccharidosis type I.
Bay L, Amartino H, Antacle A, Arberas C, Berretta A, Botto H, Cazalas M, Copiz A, De Cunto C, Drelichman G, Espada G, Eiroa H, Fainboim A, Fano V, Guelber N, Maffey A, Parisi C, Pereyra M, Remondino R, Schenone A, Spécola N, Staciuk R, Zuccaro G. Bay L, et al. Arch Argent Pediatr. 2021 Jun;119(3):e193-e201. doi: 10.5546/aap.2021.e193. Arch Argent Pediatr. 2021. PMID: 34033424 Free article. English, Spanish.
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical s …
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, estab …
MPSI Manifestations and Treatment Outcome: Skeletal Focus.
De Ponti G, Donsante S, Frigeni M, Pievani A, Corsi A, Bernardo ME, Riminucci M, Serafini M. De Ponti G, et al. Int J Mol Sci. 2022 Sep 22;23(19):11168. doi: 10.3390/ijms231911168. Int J Mol Sci. 2022. PMID: 36232472 Free PMC article. Review.
Mucopolysaccharidosis type I (MPSI) (OMIM #252800) is an autosomal recessive disorder caused by pathogenic variants in the IDUA gene encoding for the lysosomal alpha-L-iduronidase enzyme. ...
Mucopolysaccharidosis type I (MPSI) (OMIM #252800) is an autosomal recessive disorder caused by pathogenic variants in …
First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.
Fillman T, Matteson J, Tang H, Mathur D, Zahedi R, Sen I, Bishop T, Neogi P, Feuchtbaum L, Olney RS, Sciortino S. Fillman T, et al. J Pediatr. 2023 Dec;263:113644. doi: 10.1016/j.jpeds.2023.113644. Epub 2023 Jul 28. J Pediatr. 2023. PMID: 37516270
OBJECTIVE: To report on the first 3 years of mucopolysaccharidosis type I (MPS I) newborn screening (NBS) in the large and diverse state of California. ...
OBJECTIVE: To report on the first 3 years of mucopolysaccharidosis type I (MPS I) newborn screening (NBS) in the large …
77 results