Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice [0.03%]
黏多糖贮积病ⅡB型伴全血细胞减少的病例报告及小鼠血液系统的相关研究
Éliane Beauregard-Lacroix,Patricia Dubot,Alexey V Pshezhetsky et al.
Éliane Beauregard-Lacroix et al.
Mucopolysaccharidosis type IIIB (MPS IIIB), also called Sanfilippo syndrome B, is a lysosomal storage disease caused by abnormal degradation of heparan sulfate. It is characterized by progressive neurological deterioration with developmenta...
Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene [0.03%]
来自NAGLU基因纯合p.r626x（c.1876c> T）突变的穆氏多糖病IIIB型患者的诱导多能干细胞系（trndi042-a）的建立
Alexander Rodriguez-Lopez,Xiuli Huang,Catherine Chen et al.
Alexander Rodriguez-Lopez et al.
Mucopolysaccharidosis type IIIB (MPS IIIB), also known as Sanfilippo syndrome, is an autosomal recessive lysosomal storage disorder caused by mutations in the NAGLU gene. It is characterized by progressive neurodegeneration, behavioral prob...
Case Reports
Stem cell research. 2024 Dec:81:103612. DOI:10.1016/j.scr.2024.103612 2024
Characterization of early markers of disease in the mouse model of mucopolysaccharidosis IIIB [0.03%]
MPSIIIB小鼠模型疾病早期标志物的鉴定
Katherine B McCullough,Amanda Titus,Kate Reardon et al.
Katherine B McCullough et al.
Background: Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models o...
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB [0.03%]
MPS IIIB患儿的纵向自然病史研究
Ilyas Okur,Fatih Ezgu,Roberto Giugliani et al.
Ilyas Okur et al.
Objective: To characterize the longitudinal natural history of disease progression in pediatric subjects affected with mucopolysaccharidosis (MPS) IIIB. S...
Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders [0.03%]
硫酸肝素、黏多糖贮积症IIIB型及硫代谢障碍
Marta Kaczor-Kamińska,Kamil Kamiński,Maria Wróbel
Marta Kaczor-Kamińska
Mucopolysaccharidosis, type IIIB (MPS IIIB) is a rare disease caused by mutations in the N-alpha-acetylglucosaminidase (NAGLU) gene resulting in decreased or absent enzyme activity. On the cellular level, the disorder is characterized by th...
Disease modeling for Mucopolysaccharidosis type IIIB using patient derived induced pluripotent stem cells [0.03%]
基于患者诱导多能干细胞的粘多糖贮积症IIIB疾病模型
Wei Huang,Yu-Shan Cheng,Shu Yang et al.
Wei Huang et al.
Mucopolysaccharidosis type IIIB (MPS IIIB) is a lysosomal disease caused by mutations in the NAGLU gene encoding α-N-acetylglucosaminidase (NAGLU) which degrades heparan sulfate in lysosomes. Deficiency in NAGLU results in lysosomal accumu...
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB [0.03%]
黏多糖贮积症IIIB型患者的精神分裂样表现和神经功能突然恶化
Yorran Hardman Araújo Montenegro,Guilherme Baldo,Roberto Giugliani et al.
Yorran Hardman Araújo Montenegro et al.
Due to their low frequency and some atypical presentations, inborn errors of metabolism are frequently misdiagnosed or underdiagnosed, which hinders the correct management of these patients. To illustrate that, here we present a patient tha...
Competitive binding of extracellular accumulated heparan sulfate reduces lysosomal storage defects and triggers neuronal differentiation in a model of Mucopolysaccharidosis IIIB [0.03%]
竞争性结合的细胞外累积肝素硫酸盐可减少黏多糖贮积病IIIB型模型中的溶酶体贮积缺陷并触发神经元分化
Valeria De Pasquale,Gianluca Scerra,Melania Scarcella et al.
Valeria De Pasquale et al.
Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders associated with the deficiency of lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting cellular accumulation of GAGs is responsibl...
Iminosugar C-Glycosides Work as Pharmacological Chaperones of NAGLU, a Glycosidase Involved in MPS IIIB Rare Disease* [0.03%]
酰胺糖C-苷类化合物可作为MPSIIIB罕见病相关酶NAGLU的药理学分子伴侣*
Sha Zhu,Yerri Jagadeesh,Anh Tuan Tran et al.
Sha Zhu et al.
Mucopolysaccharidosis type IIIB is a devastating neurological disease caused by a lack of the lysosomal enzyme, α-N-acetylglucosaminidase (NAGLU), leading to a toxic accumulation of heparan sulfate. Herein we explored a pharmacological cha...
Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome [0.03%]
IIIB型黏多糖贮积症患儿脑内基因治疗后NAGLU转基因的细胞免疫反应
Marie-Lise Gougeon,Béatrice Poirier-Beaudouin,Jérome Ausseil et al.
Marie-Lise Gougeon et al.
Mucopolysaccharidosis type IIIB syndrome (Sanfilippo disease) is a rare autosomic recessif disorder caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene coding for a lysosomal enzyme, leading to neurodegeneration and progressi...
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