A rare late progression form of Sly syndrome mucopolysaccharidosis by Nathalie Guffon, Roseline Froissart, Alain Fouilhoux

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Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome) by Poswar FDO, Henriques Nehm J, Kubaski F, Poletto E, Giugliani R

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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort by Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela

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MPS VII – Extending the classical phenotype by A. Oldham, N.J. Oxborrow, P. Woolfson, P. Jenkins, C. Gadepalli, J. Ashworth, A. Saxena, M. Rothera, C.J. Hendriksz, G. Tol, A. Jovanovic

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#322 : A Rare Case Report of Successfull Live Twin Birth in a Couple Who are Carriers of Mucopolysaccharidoses VII-Sly Syndrome by Vasundara Jagannathan, Srinidhi Ranganathan

“…So far 9 pregnancies have been recorded in patients with sly syndrome of which the majority showed some deformity. …”
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Dose-dependent effects of enzyme replacement therapy on skeletal disease progression in mucopolysaccharidosis VII dogs by Rahul Gawri, Yian Khai Lau, Gloria Lin, Snehal S. Shetye, Chenghao Zhang, Zhirui Jiang, Khaled Abdoun, Carla R. Scanzello, Stephanie Y. Jo, Wilfried Mai, George R. Dodge, Margret L. Casal, Lachlan J. Smith

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Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis by Kenji Orii, Yasuyuki Suzuki, Shunji Tomatsu, Tadao Orii, Toshiyuki Fukao

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Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene by Antonio Miguel Poyatos‐Andújar, Susana García‐Linares, Pilar Carretero, Olga Ocon, Dolores Fresneda, Laura Gort, Francisa Sonia Molina García

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Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population by Christine Haller, Wenjie Song, Tricia Cimms, Chao‐Yin Chen, Chester B. Whitley, Raymond Y. Wang, Mislen Bauer, Paul Harmatz

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Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease by Bernadette Breiden, Konrad Sandhoff

“…Chondroitin sulfate effectively inhibits GM2 catabolism in mucopolysaccharidoses like Hurler, Hunter, Sanfilippo, and Sly syndrome and causes a secondary neuronal ganglioside GM2 accumulation, triggering neurodegeneration. …”
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Theoretical investigation and design of some indole derivatives as potent β-glucuronidase inhibitors by Muhammad Tukur Ibrahim, Salisu Muhammad Tahir, Abdullahi Bello Umar, Usman Abdulfatai

“…Lack of β-glucuronidase enzyme leads to Sly syndrome in humans, and overexpression of this enzyme leads to many diseases. …”
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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings by Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia

“…Abstract Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an ultra-rare disorder with scarce epidemiological data and few publications about natural history and clinical spectrum. …”
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