Results 81 to 90 of about 21,613 (172)

A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B)

Clinical Case Reports, 2018
Key Clinical Message Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans ...
Dineshani Hettiarachchi, Nilaksha Nethikumara, Bamunu Arachchi Pathiranage Sajeewani Pathirana, Kalum Weththasigha, Weerabaddana Dilshani Niluka Dissanayake, Vajira H. W. Dissanayake   +5 more
doaj   +1 more source

EPILEPSY IN CHILDREN WITH MUCOPOLYSACCHARIDOSIS: EPIDEMIOLOGY, CLINICAL AND ELECTROENCEPHALOGRAPHIC FEATURES [PDF]

, 2018
The current knowledge of the causes and progression of epilepsy in patients with different types of mucopolysaccharidosis are presented. The article discusses the dynamics of electroencephalographic changes with age and in connection with the disease ...
Tatyana V. Podkletnova, Aleksandr A. Buksh, Sofiya G. Popovich, Olga V. Kozhevnikova, Vladislav V. Lebedev, Victoriya A. Aysina, Ludmila M. Kuzenkova, Andrey A. Gazaryan   +7 more
core   +1 more source

Liver-Targeted AAV8 Gene Therapy Ameliorates Skeletal and Cardiovascular Pathology in a Mucopolysaccharidosis IVA Murine Model.

, 2020
Mucopolysaccharidosis type IVA (MPS IVA) is due to the deficiency of GALNS
Bruder, Joseph T, Danos, Olivier, Sawamoto, Kazuki, Stapleton, Molly, Tomatsu, Shunji, Karumuthil-Melethil, Subha, Khan, Shaukat   +6 more
core   +1 more source

Relationship of Sleep to Pulmonary Function in Mucopolysaccharidosis II [PDF]

, 2013
To study the sleep characteristics, pulmonary function, and their relationships in an enzyme naive population of patients with mucopolysaccharidosis (MPS) II (Hunter syndrome)
Vaughn, Bradley V., Muhlebach, Marianne S., Wooten, William I., Muenzer, Joseph   +3 more
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

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

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
core   +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

Additional file 2: of Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

, 2016
Patient-reported outcome (PRO) measures used in mucopolysaccharidosis (MPS) studies.
Rebecca Southall (3443693), Christina Lampe (426094), Stephen Sande (3443705), Susanne Kircher (3443690), Kenneth Berger (3443696), Jeffrey Gold (3443711), Paul Orchard (3443702), Christian Hendriksz (3443699), Sarah Long (3443708)   +8 more
core   +1 more source