Results 71 to 80 of about 15,739 (180)

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

Epilepsy in mucopolysaccharidosis disorders

Molecular Genetics and Metabolism, 2017
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes involved in the catabolism of glycosaminoglycans (GAGs). The resulting GAG accumulation in cells and tissues throughout the body leads to progressive multi-organ dysfunction.
Scarpa, Maurizio, Lourenço, Charles Marques, Amartino, Hernán   +2 more
openaire   +4 more sources

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

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

Mucopolysaccharidosis [PDF]

, 2020
openaire   +1 more source

Mucopolysaccharidosis IIID and Beta-Mannosidosis in Brazilian Anglo-Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program. [PDF]

Anim Genet
Bezerra FCM, Belli LSBP, Novais JMCB, Ibelli AMG, Santos CRO, Gouveia GV, Macedo ATM, Gouveia JJS.   +7 more
europepmc   +1 more source

Advances in Therapeutic Options for Pulmonary and Sleep Disorders in Mucopolysaccharidosis (MPS) Patients: A Narrative Review. [PDF]

Adv Respir Med
Akpa B.
europepmc   +1 more source