Results 31 to 40 of about 5,715,301 (195)

Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up. [PDF]

J Inherit Metab Dis
ABSTRACT This study investigated long‐term cognitive development and genotype–phenotype relationships in patients with Mucopolysaccharidosis Type II (MPS II). A nationwide prospective cohort study was conducted in the Netherlands with cognitive follow‐up since 2007.
Holdorp JJ, Kruijshaar MEM, Vollebregt AAMA, Rietman ABA, Dijkstra MRKM, Klees CC, Wagenmakers MM, Nguyen AHPA, Oussoren EE, van der Ploeg ATA, van den Hout JMPH.   +10 more
europepmc   +2 more sources

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

Frontiers in Genetics, 2023
Background: Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases, which encompass more than 50 different subtypes of pathologies.
Rutaba Gul, Rutaba Gul, Sabika Firasat, Mikkel Schubert, Asmat Ullah, Elionora Peña, Anne C. B. Thuesen, Mulazim Hussain, Frederik F. Staeger, Anette P. Gjesing, Anders Albrechtsen, Torben Hansen   +11 more
doaj   +1 more source

Manifestaciones bucales de pacientes con mucopolisacaridosis// Oral manifestations in patients with mucopolysaccharidosis

Revista de la Asociación Odontológica Argentina, 2021
Resumen Objetivo: Describir las características bucales prevalentes de pacientes argentinos con mucopolisacaridosis (MPS) atendidos en el Servicio de Odontología del Hospital Nacional “Prof. Alejandro Posadas”.
Andrea Veronica Rios
doaj   +1 more source

The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II. [PDF]

PLoS ONE, 2014
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase.
Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Anna Tylki-Szymańska   +3 more
doaj   +1 more source

Byron II [PDF]

De Loach Vineyards "Proudly Presents Ms.
Byron II
core   +9 more sources

MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease [PDF]

, 2010
The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
core   +1 more source

Genistein: a natural isoflavone with a potential for treatment of genetic diseases [PDF]

, 2010
Genistein [4 ,5,7-trihydroxyisoflavone or 5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one] is a natural isoflavone occurring in many plants known to possess various biological activities, ranging from phyto-oestrogenic to antioxidative actions.
Narajczyk, Magdalena, Kloska, Anna, Moskot, Marta, Piotrowska, Ewa, Węgrzyn, Grzegorz, Dziedzic, Dariusz, Węgrzyn, Alicja, Gabig-Cimińska, Magdalena, Gołębiewska, Izabela, Jakóbkiewicz-Banecka, Joanna, Malinowska, Marcelina   +10 more
core   +1 more source

Comparison of siRNA-mediated silencing of glycosaminoglycan synthesis genes and enzyme replacement therapy for mucopolysaccharidosis in cell culture studies [PDF]

, 2012
Cytotoxicity of laronidase (Aldurazyme®), employed in enzyme replacement therapy (ERT) for mucopolysaccharidosis type I (MPS I) and various siRNAs, tested previously in studies on substrate reduction therapy (SRT) for mucopolysaccharidoses, was ...
Banecka-Majkutewicz, Zyta, Węgrzyn, Alicja, Gabig-Cimińska, Magdalena, Jakóbkiewicz-Banecka, Joanna, Chmielarz, Izabela, Malinowska, Marcelina   +5 more
core   +2 more sources

Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Вопросы современной педиатрии, 2020
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder ...
Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Grigory V. Revunenkov, Tina V. Lobjanidze, Marina A. Babaikina   +6 more
doaj   +1 more source

Clinical and Radiological Features Suggestive of Mucopolysaccharidosis in Two Siblings From Sudan: A Case Series. [PDF]

Clin Case Rep
ABSTRACT Mucopolysaccharidosis should be suspected in patients presenting with multisystem involvement, including coarse facial features, skeletal abnormalities, and progressive organ dysfunction, particularly in resource‐limited settings where delayed diagnosis is common.
Bella A, Dafallah MA, Fadlalla AY, Elmardi BF, Alataya YM, Abdalla AA, Ibrahim MAA, Nugud MF, Babiker SEA, Al Amin HF, Mohammed SAY, Mohammed ME.   +11 more
europepmc   +2 more sources