Results 61 to 70 of about 12,127 (209)

Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I [PDF]

, 2017
Umbilical cord blood (UCB) is a promising source of stem cells to use in early haematopoietic stem cell transplantation (HSCT) approaches for several genetic diseases that can be diagnosed at birth.
A Oikawa, A Pievani, A Pievani, A Scaradavou, AE Willing, B Sacchetti, C Davenport, C Schulte, CM Simonaro, DC Mendez, DE Harrison, DE Harrison, DJ Rowan, DK Kim, DL Selle, DT Harris, F Gatto, F Kubaski, F Migishima, FL Wilkinson, HE Broxmeyer, J Palis, JJ Boelens, K Ohmi, K Uchida, K Uchida, KK Ballen, L Lu, LA Clarke, LA Clarke, M Aldenhoven, M Aldenhoven, M Aldenhoven, M Aldenhoven, M Beck, M Schmidt, ME Bernardo, MF Garcia-Rivera, O Levy, S Coşkun, S Garbuzova-Davis, S Jayaraman, S Tomatsu, S Tomatsu, S Tomatsu, SC Kuehn, SH Boyer, SJ Morrison, SL Staba, VK Prasad, VK Prasad, W Chuan, XY Zhong, Y Zheng, ZY Li   +54 more
core   +2 more sources

RNF13 is a previously undescribed interactor of iduronate 2‐sulfatase that modifies its glycosylation and maturation

The FEBS Journal, EarlyView.
Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Valérie C. Cabana, Antoine Y. Bouchard, Audrey M. Sénécal, Laurent Cappadocia, Marc P. Lussier   +4 more
wiley   +1 more source

MODERN APPROACHES TO THERAPY FOR CHILDREN WITH MUCOPOLYSACCHARIDOSIS

Вопросы современной педиатрии, 2014
Mucopolysaccharidosis is the group of hereditary metabolic disorders; it is characterized by accumulation of glycosaminoglycans owing to storage of specific lysosomal enzymes.
N. V. Buchinskaya, I. А. Chikova, E. А. Isupova, О. V. Kalashnikova, М. М. Kostik, V. G. Chasnyk   +5 more
doaj   +1 more source

Update on the fluorometric measurement of enzymatic activities for Lysosomal Storage Disorder detection: The example of MPS VI [PDF]

, 2017
Lysosomal Storage Disorders (LSD) are rare diseases that as a whole havea combined incidence ranging from 1:1500 to 1:7000 live births. One of suchdiseases is Mucopolysaccharidosis VI (MPS VI), or Maroteaux Lamy Syndrome.MPS VI patients undergo ...
Adamo, Ana María, Franco, Paula Gabriela, Mathieu, Patricia Andrea, Perez, Maria Julia, Setton, Clara Patricia, Silvestroff, Lucas   +5 more
core  

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure [PDF]

, 2017
The design and conduct of clinical studies to evaluate the effects of novel therapies on central nervous system manifestations in children with neuronopathic mucopolysaccharidoses is challenging.
Adams, H.R. (Heather R.), Clarke, L.A. (L.), Ebbink, B.J. (Johanneke), Escolar, M.L. (Maria L.), Giugliani, R. (Roberto), Harmatz, P. (Paul), Hogan, M. (Melissa), Janzen, D. (Darren), Jones, S.A. (Simon), Kearney, S. (Shauna), Lee, J.H. (Johanna) van der, Morton, J. (Jonathan), Muenzer, J. (Joseph), Rust, S. (Stewart), Semrud-Clikeman, M. (Margaret), Shapiro, E. (Elsa), Wijburg, F.A. (Frits), Yu, Z.-F. (Zi-fan)   +17 more
core   +1 more source

Short‐Term Oral Spermidine Supplementation Modifies Aspects of Neurodegenerative Disease in Flies and Mice With MPS III

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis type III (MPS III) is a group of autosomal recessive neurodegenerative lysosomal storage disorders that causes progressive cognitive and physical impairment, predominantly in child/early adulthood. The median age of death is 17 years as there is no safe, effective treatment approved.
Helen Beard, Sonia Dayan, Karissa Barthelson, Laura Hewson, Louise V. O'Keefe, Kim M. Hemsley   +5 more
wiley   +1 more source

Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Mucopolysaccharidosis Type IV is a multisystem lysosomal storage disease characterized by severe skeletal dysplasia resulting from impaired degradation of the glycosaminoglycans keratan sulfate and chondroitin‐6‐sulfate. The condition is classified into Types A and B based on the underlying enzyme deficiency.
Mark Wijnen, Evert F. S. van Velsen, J. Gert‐Jan Milhous, Esmee Oussoren, Bram C. J. van der Eerden, Margreet A. E. M. Wagenmakers   +5 more
wiley   +1 more source

A case of hunter syndrome and Alder-Reilly anomaly

Journal of Applied Hematology, 2017
A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided hydrocele. On investigation, the peripheral smear revealed Alder–Reilly anomaly in the neutrophils suggesting mucopolysaccharidosis (MPS).
Nour AlMozain, Nasir A Bakshi
doaj   +1 more source

Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America [PDF]

, 2014
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Acosta, Angelina, Amartino, Hernán, Cabello, Juan Francisco, Garzón, Luz Norela Correa, Giugliani, Roberto, Guelbert, Norberto, Hawilou, Antonieta Mahfoud, Lemes, Aída, Martins, Ana Maria, Santos, Mara Lucia Schmitz Ferreira, Valdez, C. Araceli Arellano, Villarreal, Martha Luz Solano   +11 more
core   +5 more sources

Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome) [PDF]

Expert Opinion on Orphan Drugs, 2017
Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). MPS II is both multi-systemic and progressive.
Molly, Stapleton, Francyne, Kubaski, Robert W, Mason, Hiromasa, Yabe, Yasuyuki, Suzuki, Kenji E, Orii, Tadao, Orii, Shunji, Tomatsu   +7 more
openaire   +2 more sources