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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.
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 …
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 …
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.
Consiglieri G, Tucci F, De Pellegrin M, Guerrini B, Cattoni A, Risca G, Scarparo S, Sarzana M, Pontesilli S, Mellone R, Gasperini S, Galimberti S, Silvani P, Filisetti C, Darin S, Forni G, Miglietta S, Santi L, Facchini M, Corti A, Fumagalli F, Cicalese MP, Calbi V, Migliavacca M, Barzaghi F, Ferrua F, Gallo V, Recupero S, Canarutto D, Doglio M, Tedesco L, Volpi N, Rovelli A, la Marca G, Valsecchi MG, Zancan S, Ciceri F, Naldini L, Baldoli C, Parini R, Gentner B, Aiuti A, Bernardo ME. Consiglieri G, et al. Sci Transl Med. 2024 May;16(745):eadi8214. doi: 10.1126/scitranslmed.adi8214. Epub 2024 May 1. Sci Transl Med. 2024. PMID: 38691622 Clinical Trial.
Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that is not fully addressed by allogeneic hematopoietic stem cell transplantation (HSCT). ...
Mucopolysaccharidosis type I Hurler (MPSIH) is characterized by severe and progressive skeletal dysplasia that is not f …
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 …
Differences in MPS I and MPS II Disease Manifestations.
Hampe CS, Yund BD, Orchard PJ, Lund TC, Wesley J, McIvor RS. Hampe CS, et al. Int J Mol Sci. 2021 Jul 23;22(15):7888. doi: 10.3390/ijms22157888. Int J Mol Sci. 2021. PMID: 34360653 Free PMC article. Review.
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 …
MPS I: Early diagnosis, bone disease and treatment, where are we now?
Kingma SDK, Jonckheere AI. Kingma SDK, et al. J Inherit Metab Dis. 2021 Nov;44(6):1289-1310. doi: 10.1002/jimd.12431. Epub 2021 Sep 15. J Inherit Metab Dis. 2021. PMID: 34480380 Review.
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterized by alpha-L-iduronidase deficiency. ...
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder characterized by alpha-L-iduronidase deficiency. . …
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 …
64 results