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1970 1
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1995 1
1996 1
2001 1
2003 1
2004 1
2006 1
2007 3
2008 2
2009 1
2010 1
2011 3
2012 1
2013 1
2014 4
2015 6
2016 7
2017 2
2018 9
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68 results

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Page 1
Newborn screening.
Sahai I, Marsden D. Sahai I, et al. Crit Rev Clin Lab Sci. 2009;46(2):55-82. doi: 10.1080/10408360802485305. Crit Rev Clin Lab Sci. 2009. PMID: 19255915 Review.
Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy.
Bertolin J, Sánchez V, Ribera A, Jaén ML, Garcia M, Pujol A, Sánchez X, Muñoz S, Marcó S, Pérez J, Elias G, León X, Roca C, Jimenez V, Otaegui P, Mulero F, Navarro M, Ruberte J, Bosch F. Bertolin J, et al. Nat Commun. 2021 Sep 9;12(1):5343. doi: 10.1038/s41467-021-25697-y. Nat Commun. 2021. PMID: 34504088 Free PMC article.
Mucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage disorder, is caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency, resulting in keratan sulfate (KS) and chondroitin-6-sulfate accumulation. Patients develop severe skeletal …
Mucopolysaccharidosis type IVA (MPSIVA) or Morquio A disease, a lysosomal storage disorder, is caused by N-acetylgalactosamine-6-sulf …
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting in the accumulation of mul …
Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gen …
Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses.
Rapoport DM, Mitchell JJ. Rapoport DM, et al. Mol Genet Metab. 2017 Dec;122S:49-54. doi: 10.1016/j.ymgme.2017.08.008. Epub 2017 Aug 25. Mol Genet Metab. 2017. PMID: 28964643 Free article. Review.
The mucopolysaccharidoses (MPS) represent a heterogeneous group of lysosomal storage disorders, each one associated with a deficiency in one of the enzymes involved in glycosaminoglycan degradation. ...Underlying causes are diverse and comprised of both respiratory and cen …
The mucopolysaccharidoses (MPS) represent a heterogeneous group of lysosomal storage disorders, each one associated with a deficiency …
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there is a clear evidence that early intervention significantly improves the outcome. ...The key factors in recommending MPS I for inclusion in N …
Newborn screening (NBS) methods and therapeutic options have become increasingly available for mucopolysaccharidoses (MPS), and there …
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.
Mashima R, Takada S. Mashima R, et al. Int J Mol Sci. 2022 Dec 8;23(24):15549. doi: 10.3390/ijms232415549. Int J Mol Sci. 2022. PMID: 36555187 Free PMC article. Review.
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by the LIPA gene leads to LAL deficiency (LAL-D) (OMIM 278000), one of the lysosomal stor …
Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pa …
Cyclodextrins applied to the treatment of lysosomal storage disorders.
Ishitsuka Y, Irie T, Matsuo M. Ishitsuka Y, et al. Adv Drug Deliv Rev. 2022 Dec;191:114617. doi: 10.1016/j.addr.2022.114617. Epub 2022 Nov 8. Adv Drug Deliv Rev. 2022. PMID: 36356931 Review.
Recent research has focused on the potential active pharmaceutical abilities of CD. Lysosomal storage diseases are inherited metabolic diseases characterized by lysosomal dysfunction and abnormal lipid storage. ...In this review, we discuss the current …
Recent research has focused on the potential active pharmaceutical abilities of CD. Lysosomal storage diseases are inherited metab …
Clinical Utility of Elosulfase Alfa in the Treatment of Morquio A Syndrome.
Lee CL, Chuang CK, Chiu HC, Tu RY, Lo YT, Chang YH, Lin SP, Lin HY. Lee CL, et al. Drug Des Devel Ther. 2022 Jan 10;16:143-154. doi: 10.2147/DDDT.S219433. eCollection 2022. Drug Des Devel Ther. 2022. PMID: 35046639 Free PMC article. Review.
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive disorder and is one of the lysosomal storage diseases. Patients with MPS IVA have a striking skeletal phenotype but normal intellect. ...In the past, only supportive care was available. …
Mucopolysaccharidosis type IVA (MPS IVA or Morquio A) is an autosomal recessive disorder and is one of the lysosomal storage diseases …
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.
Although disease manifestations are typically not apparent at birth, they can present early in life, are progressive, and include a wide spectrum of phenotypic findings. Among these, the storage of GAGs within the lysosomes disrupts cell function and metabolism in t …
Although disease manifestations are typically not apparent at birth, they can present early in life, are progressive, and include a wide spe …
Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.
Peck SH, Casal ML, Malhotra NR, Ficicioglu C, Smith LJ. Peck SH, et al. Mol Genet Metab. 2016 Aug;118(4):232-43. doi: 10.1016/j.ymgme.2016.06.002. Epub 2016 Jun 4. Mol Genet Metab. 2016. PMID: 27296532 Free PMC article. Review.
The mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders characterized by deficient activity of enzymes that degrade glycosaminoglycans (GAGs). ...Therefore, there is a pressing need for new therapeutic approaches that specifically target this deb …
The mucopolysaccharidoses (MPS) are a family of lysosomal storage disorders characterized by deficient activity of enzymes that degra …
68 results