Results 91 to 100 of about 21,161 (167)

Bone metabolism in patients with mucopolysaccharidosis type II

, 2014
Objectives : To assess different parameters of bone metabolism in patients with mucopolysaccharidosis type II (MPS II) to better comprehend the mechanisms responsible for their skeletal pathology.
Agnieszka Jurecka, Anna Tylki-Szymańska, Anna Król-Zdechlikiewicz, Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska   +4 more
core   +1 more source

Mucopolysaccharidosis

, 2021
Bakalářská práce je věnována charakteristice onemocnění nesoucí název Mukopolysacharidóza. Stručně popisuje všech sedm typů onemocnění a větší pozornost věnuje klinickému obrazu třech nejznámějších typů MPS.
Barabaszová, Eunika
core   +1 more source

Botulinum Toxin Type A for the Treatment of Equinus Deformity in to Patients With Mucopolysaccharidosis Type II

, 2012
Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. The accumulation of glycosaminoglycans affects multiple systems, resulting in coarse facial features, short stature ...
Nava, Esmeralda, Weber, Peter, Nuoffer, Jean-Marc, Grunt, Sebastian, Gautschi, Matthias   +4 more
core   +1 more source

Management guidelines for mucopolysaccharidosis VI

, 2007
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is a lysosomal storage disease that is characterized by systemic clinical manifestations and significant functional impairment.
Giugliani, Roberto, Wraith, James E., Harmatz, Paul   +2 more
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Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening

Frontiers in Pediatrics
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder characterized by deficient or absent α-L-iduronidase (IDUA) enzyme activity due to pathogenic variants in the IDUA gene.
Hind Alsharhan, Hind Alsharhan, Hind Alsharhan, Mohammad Z. Haider, Bann Qadoura, Mariam Ayed, Gursev S. Dhaunsi, Hessa Alkandari   +7 more
doaj   +1 more source

Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management

Children
Pulmonologists may be involved in managing pulmonary diseases in children with complex clinical pictures without a diagnosis. Moreover, they are routinely involved in the multidisciplinary care of children with rare diseases, at baseline and during ...
Chiara Montanari, Veronica Maria Tagi, Enza D’Auria, Vincenzo Guaia, Anna Di Gallo, Michele Ghezzi, Elvira Verduci, Laura Fiori, Gianvincenzo Zuccotti   +8 more
doaj   +1 more source

The Pathology of the Feline Model of Mucopolysaccharidosis I [PDF]

, 1983
Five cats with feline α-L-iduronidase-deficient mucopolysaccharidosis were studied. Membrane-bound cytoplasmic inclusions were present in central nervous system neurons, hepatocytes, chondrocytes, vascular and splenic smooth muscle cells, bone marrow ...
Haskins, Mark E, Desnick, Robert J, Jezyk, Peter F, Patterson, Donald F, Aguirre, Gustavo D   +4 more
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Pathogenetic mechanisms involved in neurodegeneration in mucopolysaccharidosis type IIIB: potential role of cytokines, neurotrophins, and oxidative stress [PDF]

, 2007
Gargiulo, Nadia
core   +1 more source

The Pathology of the Feline Model of Mucopolysaccharidosis VI [PDF]

, 1980
Three cats with feline arylsulfatase-B-deficient mucopolysaccharidosis were studied by light and transmission electron microscopy. Membrane-bound cytoplasmic inclusions were present in hepatocytes, bone marrow granulocytes, vascular smooth muscle cells ...
Haskins, Mark E, Jezyk, Peter F, Patterson, Donald F, Aguirre, Gustavo D   +3 more
core  

Osteoporosis in mucopolysaccharidosis type II (Hunter's syndrome)

, 2002
The paper deals with risk of osteoporosis in children with mucopolysaccharidosis type II (or Hunter's syndrome)
Rigante, D
core