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Page 1
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Herbst ZM, Hong X, Urdaneta L, Klein T, Waggoner C, Liao HC, Kubaski F, Giugliani R, Fuller M, Gelb MH. Herbst ZM, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107632. doi: 10.1016/j.ymgme.2023.107632. Epub 2023 Jun 24. Mol Genet Metab. 2023. PMID: 37407323
In the present study, we evaluate two methods for measuring GAG biomarkers in seven MPS types and GM1 gangliosidosis. We obtained newborn DBS from patients with MPS-IIIA-D, -IVA, -VI, -VII, and GM1 gangliosidosis. ...
In the present study, we evaluate two methods for measuring GAG biomarkers in seven MPS types and GM1 gangliosidosis. We obtai …
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.
Yuskiv N, Higaki K, Stockler-Ipsiroglu S. Yuskiv N, et al. Int J Mol Sci. 2020 Nov 30;21(23):9121. doi: 10.3390/ijms21239121. Int J Mol Sci. 2020. PMID: 33266180 Free PMC article. Review.
MBD may present as pure skeletal phenotype (pure MBD) or in combination with the neuronopathic manifestations seen in type 2 (juvenile) or type 3 (late onset) GM1 gangliosidosis (MBD plus). The main skeletal features are progressive growth impairment, kyphoscoliosis …
MBD may present as pure skeletal phenotype (pure MBD) or in combination with the neuronopathic manifestations seen in type 2 (juvenile) or t …
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Deodato F, Procopio E, Rampazzo A, Taurisano R, Donati MA, Dionisi-Vici C, Caciotti A, Morrone A, Scarpa M. Deodato F, et al. Metab Brain Dis. 2017 Oct;32(5):1529-1536. doi: 10.1007/s11011-017-0044-y. Epub 2017 Jun 3. Metab Brain Dis. 2017. PMID: 28577204
Juvenile and adult GM1-gangliosidosis are invariably characterized by progressive neurological deterioration. To date only symptomatic therapies are available. We report for the first time the positive results of Miglustat (OGT 918, N-butyl-deoxynojirimycin) …
Juvenile and adult GM1-gangliosidosis are invariably characterized by progressive neurological deterioration. To date only sym …
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L, Przybilla MJ, Whitley CB. Ou L, et al. Clin Genet. 2018 May;93(5):1008-1014. doi: 10.1111/cge.13226. Epub 2018 Mar 5. Clin Genet. 2018. PMID: 29396849 Free PMC article.
Further, we investigated the phenotype severity of known disease-causing mutations of the GLB1 gene, which lead to 2 LSDs (GM1 gangliosidosis and Morquio disease type B). Based on the previous literature and structural analysis, we associated these mutations with di …
Further, we investigated the phenotype severity of known disease-causing mutations of the GLB1 gene, which lead to 2 LSDs (GM1 gan …
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Semeraro M, Sacchetti E, Deodato F, Coşkun T, Lay I, Catesini G, Olivieri G, Rizzo C, Boenzi S, Dionisi-Vici C. Semeraro M, et al. Orphanet J Rare Dis. 2021 Jan 9;16(1):24. doi: 10.1186/s13023-020-01662-8. Orphanet J Rare Dis. 2021. PMID: 33422100 Free PMC article.
RESULTS: The method allowed to confirm the diagnosis of oligosaccharidoses (sialidosis, alpha-/beta-mannosidosis, fucosidosis, aspartylglucosaminuria) and of GM1 and GM2 (Sandhoff type) gangliosidosis, by detecting specific OS profiles. ...
RESULTS: The method allowed to confirm the diagnosis of oligosaccharidoses (sialidosis, alpha-/beta-mannosidosis, fucosidosis, aspartylgluco …
Emerging strategies for the treatment of hereditary metabolic storage disorders.
Brady RO. Brady RO. Rejuvenation Res. 2006 Summer;9(2):237-44. doi: 10.1089/rej.2006.9.237. Rejuvenation Res. 2006. PMID: 16706651 Review.
This limitation is a major impediment for the treatment of patients with enzyme deficiency disorders in whom the brain is involved. Alternatives to enzyme replacement therapy that have been initiated to treat systemic manifestations and brain involvement in patients with m …
This limitation is a major impediment for the treatment of patients with enzyme deficiency disorders in whom the brain is involved. Alternat …
4-epi-Isofagomine derivatives as pharmacological chaperones for the treatment of lysosomal diseases linked to beta-galactosidase mutations: Improved synthesis and biological investigations.
Front S, Almeida S, Zoete V, Charollais-Thoenig J, Gallienne E, Marmy C, Pilloud V, Marti R, Wood T, Martin OR, Demotz S. Front S, et al. Bioorg Med Chem. 2018 Nov 1;26(20):5462-5469. doi: 10.1016/j.bmc.2018.09.023. Epub 2018 Sep 21. Bioorg Med Chem. 2018. PMID: 30270003
Based on these results and on docking studies, the 5-C-pentyl derivative 1 was selected as the optimal structure for further investigations: this compound induces the maturation of mutated beta-galactosidase in fibroblasts of a GM1-gangliosidosis patient and promote …
Based on these results and on docking studies, the 5-C-pentyl derivative 1 was selected as the optimal structure for further investigations: …
Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism.
Coelho JC, Wajner M, Burin MG, Vargas CR, Giugliani R. Coelho JC, et al. Eur J Pediatr. 1997 Aug;156(8):650-4. doi: 10.1007/s004310050685. Eur J Pediatr. 1997. PMID: 9266201
The disorders most frequently diagnosed were classical phenylketonuria, GM1 gangliosidosis, mucopolysaccharidosis type I, mucopolysaccharidosis type VI and metachromatic leukodystrophy. ...
The disorders most frequently diagnosed were classical phenylketonuria, GM1 gangliosidosis, mucopolysaccharidosis type I, muco …
Chemical chaperone treatment for galactosialidosis: Effect of NOEV on beta-galactosidase activities in fibroblasts.
Hossain MA, Higaki K, Shinpo M, Nanba E, Suzuki Y, Ozono K, Sakai N. Hossain MA, et al. Brain Dev. 2016 Feb;38(2):175-80. doi: 10.1016/j.braindev.2015.07.006. Epub 2015 Aug 7. Brain Dev. 2016. PMID: 26259553
INTRODUCTION: Galactosialidosis is a rare lysosomal storage disease caused by a combined deficiency of GM1 beta-galactosidase (beta-gal) and neuraminidase secondary to a defect of a lysosomal enzyme protective protein/cathepsin A (PPCA) and mutation in CTSA gene. ...CONCLU …
INTRODUCTION: Galactosialidosis is a rare lysosomal storage disease caused by a combined deficiency of GM1 beta-galactosidase (beta-g …
15 results