Results 91 to 100 of about 12,127 (209)

Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome [PDF]

, 2015
Background: It remains unclear to what extent the brain is affected by Maroteaux-Lamy syndrome (MPS VI), a progressive lysosomal storage disorder. While enzyme replacement therapy (ERT) elicits positive effects, the drug cannot cross the blood–brain ...
Aarsen, F.K. (Femke), Brands, M.M.G. (Marion M. G.), Coebergh van den Braak, R.R.J. (Robert), Ebbink, B.J. (Johanneke), Hout, J.M.P. (Johanna) van den, Leguin, M. (Maarten), Ploeg, A.T. (Ans) van der, Plug, I. (Iris), van de Weitgraven, R.L. (Rianne L.)   +8 more
core   +1 more source

Olipudase alfa IgE‐mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency

Pediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Laura Fiori, Veronica Maria Tagi, Silvia Beretta, Chiara Montanari, Ilenia Pia Greco, Gianvincenzo Zuccotti, Enza D'Auria   +6 more
wiley   +1 more source

Society for Maternal‐Fetal Medicine Consult Series #75: Evaluation and management of non‐immune hydrops fetalis

Pregnancy, Volume 2, Issue 2, March 2026.
Abstract Non‐immune hydrops fetalis (NIHF) can result from a multitude of underlying causes, such as fetal genetic diseases, congenital anomalies, infections, fetal arrhythmias, placental tumors, monochorionic twin complications, and other disorders.
Society for Maternal‐Fetal Medicine (SMFM), Teresa. N. Sparks, Mary. E. Norton, SMFM Publications Committee   +3 more
wiley   +1 more source

Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]

, 2014
Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes, Foster, Helen, Hardy, Elizabeth, Hensman, Pauline, Jones, Simon, Rapley, Timothy, Sen, Ethan, Wraith, Edmond   +7 more
core   +2 more sources

Osteoarthropathy in mucopolysaccharidosis type II.

Clujul medical (1957), 2015
Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability.
Ioana, Nascu, Paula, Grigorescu-Sido, Camelia, Al-Khzouz, Simona, Bucerzan, Carmencita, Denes, Cecilia, Lazea   +5 more
openaire   +1 more source

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease [PDF]

, 2018
Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Caciotti, Anna, Cooper, David N., Deodato, Federica, Gasperini, Serena, Guerrini, Renzo, Morrone, Amelia, Mort, Matthew, Parenti, Giancarlo, Parini, Rossella, Rigoldi, Miriam, Sibilio, Michelina, Taurisano, Roberta, Tonin, Rodolfo   +12 more
core   +4 more sources

Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms

EMBO Molecular Medicine, 2018
The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory disease.
Hélène FE Gleitz, Ai Yin Liao, James R Cook, Samuel F Rowlston, Gabriella MA Forte, Zelpha D'Souza, Claire O'Leary, Rebecca J Holley, Brian W Bigger   +8 more
doaj   +1 more source

Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II

Pediatric Neurosurgery, 2015
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (EC 3.1.6.13). The purpose of this report is to describe cervical spine magnetic resonance (MRI) findings in MPS II patients and to correlate them with clinical phenotype.
Żuber, A., Jurecka, A., Jurkiewicz, E., Kieć-Wilk, Beata, Tylki-Szymańska, Anna   +4 more
openaire   +3 more sources

Mediastinal Tracheostoma for Treatment of Tracheostenosis after Tracheostomy in a Patient with Mucopolysaccharidosis-Induced Tracheomalacia

Case Reports in Surgery, 2017
Background. Treatment of tracheostenosis after tracheostomy in pediatric patients is often difficult. Mucopolysaccharidosis is a lysosomal storage disease that may induce obstruction of the airways. Case Presentation. A 16-year-old male patient underwent
Yasuhiro Chikaishi, Kenichi Kobayashi, Shuichi Shinohara, Akihiro Taira, Yusuke Nabe, Shinji Shinohara, Taiji Kuwata, Masaru Takenaka, Soichi Oka, Ayako Hirai, Kazue Yoneda, Koji Kuroda, Naoko Imanishi, Yoshinobu Ichiki, Fumihiro Tanaka   +14 more
doaj   +1 more source

Merging evans syndrome with mucopolysaccharidosis type II: a case report

Frontiers in Pediatrics
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal storage metabolic disorder caused by pathogenic mutations in the iduronate-2-sulfatase (IDS) gene. Herein, we report the case of a 2-year-old male patient diagnosed with concurrent
Xinrui Wang, Jing Zhang, Yanhui Tang, Chunyan Liu, Peng Hu, You Yang, Hongying Chen   +6 more
doaj   +1 more source