Results 81 to 90 of about 21,161 (167)

alpha-L-Iduronidase and enzyme replacement therapy for mucopolysaccharidosis I

, 2002
Mucopolysaccharidosis I (McKusick 25280, Hurler syndrome, Scheie syndrome) is caused by a deficiency in the lysosomal hydrolase, α-L-iduronidase (EC 3.2.1.76) and results in a failure to degrade the glycosaminoglycans, dermatan sulfate and heparan ...
Brooks, D.
core   +1 more source

Prediction of neuropathology in mucopolysaccharidosis I patients

, 2005
Mucopolysaccharidosis I is a lysosomal storage disorder caused by a deficiency of the lysosomal hydrolase alpha-l-iduronidase, which is required for the degradation of heparan sulphate and dermatan sulphate. Given the wide spectrum of disease severity in
Fuller, M., Hein, L., Hopwood, J., Evangelista, M., Brooks, D., Meikle, P.   +5 more
core   +1 more source

Diagnostic and treatment strategies in mucopolysaccharidosis VI

, 2015
Filippo Vairo,1–3 Andressa Federhen,1,3,4 Guilherme Baldo,1,2,5–7 Mariluce Riegel,1,6 Maira Burin,1 Sandra Leistner-Segal,1,8 Roberto Giugliani1,5,6,81Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil;
Federhen A, Leistner-Segal S, Giugliani R, Vairo F, Burin M, Baldo G, Riegel M   +6 more
core  

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Mucopolysaccharidosis Type IIIE: A Real Human Disease or a Diagnostic Pitfall?

Diagnostics
Mucopolysaccharidoses (MPS) comprise a group of 12 metabolic disorders where defects in specific enzyme activities lead to the accumulation of glycosaminoglycans (GAGs) within lysosomes. This classification expands to 13 when considering MPS IIIE.
Karolina Wiśniewska, Jakub Wolski, Magdalena Żabińska, Aneta Szulc, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Węgrzyn   +6 more
doaj   +1 more source

Sleep-related hypermotor epilepsy in a patient with mucopolysaccharidosis type III [PDF]

Sleep Science
Both non-epileptic sleep disturbances and epilepsy are common in patients with mucopolysaccharidoses (MPS), so diagnosis of sleep-related hypermotor epilepsy in these patients is a tackling issue.
Anna A. Abramova, Hrayr P. Attarian, Snezhana M. Dolgova, Alexandra I. Belyakova-Bodina, Elena V. Iakovenko, Amayak G. Broutian   +5 more
doaj   +1 more source

α-L-iduronidase therapy for mucopolysaccharidosis type I

, 2008
Jakub Tolar, Paul J OrchardDivision of Hematology, Oncology, Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USAAbstract: More than 500 patients with mucopolysaccharidosis type IH (MPS IH; Hurler ...
Jakub Tolar, Paul J Orchard
core  

Pigmented Paravenous Chorioretinal Atrophy and Mucopolysaccharidosis: A Case Report

Journal of Current Ophthalmology
Purpose: To report the atypical case of a patient with mucopolysaccharidosis type II (MPS II) in whom bilateral pigmented paravenous chorioretinal atrophy (PPRCA) was found. Methods: An observational case report. Results: We present the case of a 31-year-
Zineb Algouti, Houda Bezza, Mohamed Kriet, Fouad El asri   +3 more
doaj   +1 more source

Stomatological Problems in Child with the II Type Mucopolysaccharidosis

Česká Stomatologie a Praktické Zubní Lékařství, 2013
Introduction: Mucopolysaccharidoses are congenital, hereditary disorders of metabolism, caused by deficiency of vital enzyme. As a result of this the products of metabolism accumulate and settle in tissues and body organs (liver, spleen, heart, brain ...
L. Baborská, V. Merglová
doaj   +1 more source

Expression of alpha-N-acetylglucosaminidase fused to the HIV-1 protein transduction domain and a modified protein transduction domain [PDF]

, 2008
The genetic disorder mucopolysaccharidosis IIIB, which primarily affects the central nervous system (CNS), is caused by a deficiency in the enzyme alpha-Nacetylglucosarninidase (Naglu).
Bandsmer, Judith Christine.
core