Results 11 to 20 of about 8,642 (245)

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

Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study. [PDF]

Orphanet J Rare Dis
Blin M, Tardieu M, Lacombe D, Gorce M, Damaj L, Barth M, Genevaz D, Vibet S, Labarthe F.   +8 more
europepmc   +3 more sources

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder. [PDF]

Clin Case Rep
ABSTRACT This case highlights a rare co‐existence of Morquio syndrome with bronchial asthma and myoclonic seizures, expanding the known clinical spectrum. It emphasizes the need for comprehensive, multidisciplinary management to address multisystem involvement and describes the challenges of treatment in resource‐limited settings where advanced ...
Bastola B, Dahal S, Acharya RR, Sah M, Wagle P.   +4 more
europepmc   +2 more sources

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies. [PDF]

J Inherit Metab Dis
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Schiffmann R.
europepmc   +2 more sources

Correction to: Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63 + cells. [PDF]

Virchows Arch
Murgasova L, Hulkova H, Baresova V, Jurovcik M, Stritesky J, Jurickova K, Magner M, Sikora J.   +7 more
europepmc   +3 more sources

Neuraminidase 1 secondary deficiency contributes to CNS pathology in neurological mucopolysaccharidoses via brain protein hypersialylation. [PDF]

J Clin Invest
Xu T, Heon-Roberts R, Moore T, Dubot P, Pan X, Guo T, Cairo CW, Holley RJ, Bigger B, Durcan TM, Levade T, Ausseil J, Amilhon B, Gorelik A, Nagar B, Khan S, Tomatsu S, Sturiale L, Palmigiano A, Röckle I, Thiesler H, Hildebrandt H, Garozzo D, Pshezhetsky AV.   +23 more
europepmc   +3 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

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

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