Results 141 to 150 of about 32,710 (240)

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

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

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

Varna Medical Forum, 2016
Desislava Hristakeva-Atanasova, Under the supervison of Dr. Luba Bachvarova   +1 more
openaire   +2 more sources

Airway management of a child with mucopolysaccharidosis undergoing cervical spine surgery: A case report

Saudi Journal of Anaesthesia
“Mucopolysaccharidosis” (MPS) is a rare, autosomal recessive lysosomal storage disease characterized by deficiencies in 11 different lysosomal enzymes involved in the metabolism of glycosaminoglycans (GAGs) leading to its accumulation, the condition ...
Ahmed S Elbashary, Naveed U Kanchi, M Bilal Delvi, Abdulelah I Alhatlan   +3 more
doaj   +1 more source

Mucopolysaccharidosis [PDF]

, 2020
openaire   +1 more source

Unveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network. [PDF]

Diseases
Montenegro YHA, Alves MFA, Santos-Lopes SSD, Souza CFM, Poswar FO, Brusius-Facchin AC, Bender-Pasetto F, Michelin-Tirelli K, Sebastião FM, Trapp FB, Ribeiro EM, Medeiros PFV, Kim CA, Embiraçu EK, Riegel-Giugliani M, Baldo G, Giugliani R.   +16 more
europepmc   +1 more source

Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry. [PDF]

World J Clin Pediatr
Vechkasova AO, Zakharova EY, Buchinskaya NV, Vashakmadze ND, Namazova-Baranova LS, Ivanov DO, Kutsev SI, Kostik MM.   +7 more
europepmc   +1 more source

Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study. [PDF]

Neurol Int
Wiertel-Krawczuk A, Krawczuk Z, Huber J.
europepmc   +1 more source