Results 1 to 10 of about 7,143 (200)

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis [PDF]

Diagnostics, 2020
The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al.
Kenji Orii, Yasuyuki Suzuki, Shunji Tomatsu, Tadao Orii, Toshiyuki Fukao   +4 more
doaj   +3 more sources

Enzyme replacement therapies: what is the best option? [PDF]

BioImpacts, 2018
Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Azam Safary, Mostafa Akbarzadeh Khiavi, Rahimeh Mousavi, Jaleh Barar, Mohammad A Rafi   +4 more
doaj   +4 more sources

The top 100 most cited articles on mucopolysaccharidoses: a bibliometric analysis [PDF]

Frontiers in Genetics
Background: Bibliometrics can trace general research trends in a particular field. Mucopolysaccharidoses (MPS), as a group of rare genetic diseases, seriously affect the quality of life of patients and their families.
Ruyu Liao, Rongrong Geng, Yue Yang, Yufan Xue, Lili Chen, Lan Chen   +5 more
doaj   +2 more sources

Glaucoma in mucopolysaccharidoses

Orphanet Journal of Rare Diseases, 2021
Mucopolysaccharidoses are a group of lysosomal storage disorders that are caused by deficiency of enzymes involved in glycosaminoglycans degradation.
Weijing Kong, Jing Zhang, Cheng Lu, Yingxue Ding, Yan Meng   +4 more
doaj   +1 more source

Molecular environment and atypical function: What do we know about enzymes associated with Mucopolysaccharidoses?

Orphanet Journal of Rare Diseases, 2022
Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes involved in glycosaminoglycans degradation. Relationship between mucopolysaccharidoses and related enzymes has been clarified clearly.
Weijing Kong, Cheng Lu, Yingxue Ding, Yan Meng   +3 more
doaj   +1 more source

Mucopolysaccharidosis

Taiwan Journal of Ophthalmology, 2023
Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs.
Kusumitha Bhakthaganesh, Manumuraleekrishna, Murugesan Vanathi, Shifa Ahmed, Noopur Gupta, Radhika Tandon   +5 more
doaj   +1 more source

Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders

Diagnostics, 2021
Glycosaminoglycans (GAGs) are present in proteoglycans, which play critical physiological roles in various tissues. They are known to be elevated in mucopolysaccharidoses (MPS), a group of rare inherited metabolic diseases in which the lysosomal enzyme ...
Paige C. Amendum, Shaukat Khan, Seiji Yamaguchi, Hironori Kobayashi, Yasuhiko Ago, Yasuyuki Suzuki, Betul Celik, Estera Rintz, Jobayer Hossain, Wendi Xiao, Shunji Tomatsu   +10 more
doaj   +1 more source

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans

Diagnostics, 2021
Mucopolysaccharidoses (MPS) and mucolipidosis (ML II/III) are a group of lysosomal storage disorders (LSDs) that occur due to a dysfunction of the lysosomal hydrolases responsible for the catabolism of glycosaminoglycans (GAGs).
Nivethitha Arunkumar, Dung Chi Vu, Shaukat Khan, Hironori Kobayashi, Thi Bich Ngoc Can, Tsubasa Oguni, Jun Watanabe, Misa Tanaka, Seiji Yamaguchi, Takeshi Taketani, Yasuhiko Ago, Hidenori Ohnishi, Sampurna Saikia, José V. Álvarez, Shunji Tomatsu   +14 more
doaj   +1 more source

Burden of Surgical Treatment for the Management of Cervical Myelopathy in Mucopolysaccharidoses: A Systematic Review

Brain Sciences, 2022
Mucopolysaccharidoses (MPSs) are a rare group of heterogeneous genetic and metabolic disorders, caused by loss of functions of several enzymes that are involved in glycosaminoglycan catabolism.
Roberta Costanzo, Lapo Bonosi, Massimiliano Porzio, Federica Paolini, Lara Brunasso, Andrea Evier Giovannini, Manikon Poullay Silven, Giuseppe Roberto Giammalva, Giuseppe Emmanuele Umana, Gianluca Scalia, Domenico Gerardo Iacopino, Rosario Maugeri   +11 more
doaj   +1 more source

Atypical corneal clouding in mucopolysaccharidoses

Oman Journal of Ophthalmology, 2023
The etiology for corneal clouding from the birth is varied and includes conditions such as sclerocornea, birth trauma, corneal ulcer, Peters anomaly, and rare causes like mucopolysaccharidoses (MPS).
Mary Stephen, M Loganathan, S Swathi, B Priyavadhana   +3 more
doaj   +1 more source