Results 51 to 60 of about 97,768,729 (189)

Mucopolysaccharidosis type II (Hunter syndrome) in a boy from the Republic of Serbia: A case report [PDF]

Kragujevac Journal of Science, 2023
Mucopolysaccharidosis type II or Hunter syndrome is a hereditary, progressive disease that occurs due to the deposition of acidic glucosaminoglycans in lysosomes, due to hereditary deficits of specific degradation enzymes.
Tubić-Vukajlović Jovana M., Bojović Lana P., Jevremović Nevena G., Simić Ivan B.   +3 more
doaj  

Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

JIMD Reports, 2021
Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS).
Maria Fuller, David Ketteridge
doaj   +1 more source

The Burden of Airway Disease in Mucopolysaccharidoses: Evidence Across Subtypes

The Laryngoscope, EarlyView.
ABSTRACT Objective To synthesize the prevalence and subtype‐specific patterns of airway manifestations in mucopolysaccharidoses (MPS) and summarize related morbidity and mortality. Data Sources PubMed, CINAHL, Ovid Embase, Ovid MEDLINE, and Ovid All EBM Reviews.
Julia Edward, Alix Pincivy, Mathieu Bergeron   +2 more
wiley   +1 more source

Correlation and linear regression of I2S concentrations measured by ELISA and bioactivity (4-MUF) assays.

, 2016
4-MUF, 4-methylumbelliferyl-α-iduronate-2-sulfate; ELISA, enzyme linked immunosorbent assay; I2S, iduronate-2-sulfatase.
Bob Crooker (3232881), Kathleen J. Palmieri (3232884), Thomas G. McCauley (716871), Eilish Brown (3232878), Jou-Ku Chung (716869)   +4 more
core   +1 more source

Generation of an induced pluripotent stem cell line (TRNDi008-A) from a Hunter syndrome patient carrying a hemizygous 208insC mutation in the IDS gene

Stem Cell Research, 2019
Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare X-linked genetic disease caused by mutations in the IDS gene encoding iduronate 2-sulfatase (I2S).
Junjie Hong, Miao Xu, Rong Li, Yu-Shan Cheng, Jennifer Kouznetsova, Jeanette Beers, Chengyu Liu, Jizhong Zou, Wei Zheng   +8 more
doaj   +1 more source

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Selective autophagy is increasingly recognized as a fundamental quality‐control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates.
Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus   +3 more
wiley   +1 more source

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)

, 1993
Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole ...
Morris, C Phillip, Beck, Michael, Schwinger, Eberhard, Schinzel, Albert, Gal, Andreas, Zuther, Cornelia, Bunge, Susanna, Hopwood, John J, Steglich, Cordula   +8 more
core   +1 more source

“IDS crossing of the Blood-Brain Barrier corrects CNS defects in MPSII mice” [PDF]

, 2010
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice Mucopolysaccharidosis type II (MPSII), or Hunter syndrome, arises from a deficiency in iduronate 2-sulfatase (IDS), and it is characterized by progressive somatic and ...
Polito, Vinicia Assunta
core   +1 more source

Management of Difficult Airway in a Patient with Mucopolysaccharidosis Type II

Journal of Pediatric Emergency and Intensive Care Medicine, 2019
Mucopolysaccharidosis type II (MPS II) is a rare, X-linked recessive disease characterized by deficiency of lysosomal iduronate-2-sulfatase. Progressive upper airway obstruction is common in patients with MPS II.
Damla Hanalioğlu, Batuhan Yeke, Ahmet Ziya Birbilen, Serap Sivri, Özlem Tekşam   +4 more
doaj   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source