Results 91 to 100 of about 1,965 (163)

Mucopolysaccharidoses and anaesthesia [PDF]

Canadian Journal of Anaesthesia, 1988
David Baines, John Keneally, Ian A. Herrick, Elliot J. Rhine   +3 more
openaire   +2 more sources

Mucopolysaccharidoses

Batna Journal of Medical Sciences (BJMS), 2015
Les Mucopolysaccharidoses (MPS) sont des maladies héréditaires dues à un défaut enzymatique { l’origine de dépôts de glycosaminoglycanes (mucopolysaccharides) au niveau des lysosomes. Ces dépôts vont se retrouver au niveau de tous les organes de façon plus ou moins importante avec des manifestations plus ou moins précoces et plus ou moins parlantes ...
openaire   +2 more sources

Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings.

, 2007
In mucopolysaccharidoses, upper airway obstruction has multiple causative factors and progressive respiratory disease may severely affect morbidity and mortality.
MONTELLA, SILVIA, VIGGIANO D, CESARO A, SANTAMARIA, FRANCESCA, ANDREUCCI MV, CAPALDO, BRUNELLA, PARENTI, GIANCARLO, POLVERINO M, CICCARELLI R, ANDRIA, GENEROSO   +9 more
core   +1 more source

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

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   +1 more source

Mucopolysaccharidoses—What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview

Biomolecules
The classification of mucopolysaccharidoses (MPSs) includes the classical types (I; II; III with subtypes A, B, C, and D; IV with subtypes A and B; VI; VII; IX; X), associated with impaired lysosomal degradation of mucopolysaccharides, also known as ...
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Karolina Wiśniewska, Joanna Rusecka, Agnieszka Ługowska, Zbigniew Żuber, Aleksandra Jezela-Stanek, Zuzanna Cyske, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Węgrzyn, Anna Tylki-Szymańska   +11 more
doaj   +1 more source

Key-clinical features related to age of onset for Mucopolysaccharidoses

, 2001
The paper discusses the key-clinical features related to age of onset in children affected by different types of ...
Rigante, D
core  

Mass screening for mucopolysaccharidoses 1) Mass screening test for mucopolysaccharidoses using the 1.9-dimethylmethylene blue method : Positive interference from paper diapers 2) Glycosaminoglycans in neonatal urine [PDF]

博士論文 (Doctoral dissertation)1) Mass screening test for mucopolysaccharidoses using the 1.9-dimethylmethylene blue method : Positive interference from paper diapers2) Glycosaminoglycans in neonatal ...
岩田, 晶子
core   +1 more source

Evaluation with dual-energy X-ray absorptiometry in Mucopolysaccharidoses.

, 2003
Dual-energy X-ray absorptiometry is the technique described for evaluating bone mineral densities in patients with ...
Caradonna, Paolo, Ricci, Roberta, Candelli, Marcello, Rigante, Donato   +3 more
core  

Mass screening for mucopolysaccharidoses 1) Mass screening test for mucopolysaccharidoses using the 1.9-dimethylmethylene blue method : Positive interference from paper diapers 2) Glycosaminoglycans in neonatal urine [PDF]

, 2000
博士論文 (Doctoral dissertation)1) Mass screening test for mucopolysaccharidoses using the 1.9-dimethylmethylene blue method : Positive interference from paper diapers2) Glycosaminoglycans in neonatal urinedoctoral ...
396630, 岩田, 晶子
core  

Otorhinolaryngological manifestations of the mucopolysaccharidoses

, 2005
The mucopolysaccharidoses (MPS) are a family of related inherited metabolic disorders where, due to specific lysosomal enzyme deficiencies, partially degraded glycosaminoglycans (GAGs) accumulate in the body's cells.
Penney, S., Rothera, M. P., Bruce, I. A.; id_orcid, Simmons, M. A., Wraith, E.   +4 more
core   +1 more source