Results 81 to 90 of about 1,451,354 (224)

SÍNDROME DE MORQUIO (MUCOPOLISACARIDOSIS TIPO IV) Y EMBARAZO

Revista Chilena de Obstetricia y Ginecología, 2005
Se presenta el caso de una paciente embarazada, portadora de Síndrome de Morquio (Mucopolisacaridosis tipo IV), que evoluciona con polihidroamnios y disnea.
Hugo Salinas P., Jessica Preisler R., Julio Astudillo D., Sergio Cerda S.M., Silvia Castillo T., Flor Fernández S., Rodolfo Ide V.   +6 more
doaj  

Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management

Педиатрическая фармакология, 2022
Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy ...
Yulia P. Semschikova, Yurii A. Kozlov, Andrei B. Yakovlev, Vera M. Shinkareva, Tatyana V. Barzunova, Natalia I. Manjkova, Evgenii A. Balakirev   +6 more
doaj   +1 more source

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]

, 2019
BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B., Lund, Troy C., Miller, Weston P., Orchard, Paul J., Patterson, Marc C., Pollard, Laura, Renaud, Deborah L., Simmons, Katrina, Wenger, David A.   +8 more
core   +1 more source

Utility and Safety of Romiplostim in Pediatric Allogeneic Stem Cell Transplantation

Pediatric Transplantation, Volume 29, Issue 8, December 2025.
ABSTRACT Background The use of romiplostim, a thrombopoietin agonist, has increased in the last decade for the treatment of immune mediated thrombocytopenia and severe aplastic anemia. Its utility has been explored in the management of delayed platelet engraftment and secondary platelet failure during stem cell transplant (SCT), but its use has ...
Srividhya Senthil, Abdul Moothedath, Jane Elizabeth Potter, Heather Mcgrath Wilkinson, Eden Whiteside, Ramya Nataraj, Omima Mustafa, Claire Horgan, Denise Bonney, Sarah Brett, Rob Wynn   +10 more
wiley   +1 more source

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. [PDF]

, 2019
IntroductionMucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B).
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Giugliani, Roberto, Gold, Jeffrey I, Harmatz, Paul, Hendriksz, Christian, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, MPS Consensus Programme Co-Chairs, MPS Consensus Programme Steering Committee, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Scarpa, Maurizio, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert   +30 more
core  

Engineered RNA Devices for In Vivo Targeted Therapeutics via Advanced Delivery Systems

Aggregate, Volume 6, Issue 11, November 2025.
Schematic illustration of engineered RNA devices for in vivo targeted therapeutics via advanced delivery systems. ABSTRACT Engineered RNA devices can identify disease‐specific markers and precisely regulate gene expression, which is of great significance to the development of precision medicine.
Wei Luo, Xia Liu, Ying Han, Yijing Duan, Chuao Yu, Na Kong, Tian Xie   +6 more
wiley   +1 more source

MR‐Guidance of Gene Therapy for Brain Diseases: Moving From Palliative Treatment to Cures

Journal of Magnetic Resonance Imaging, Volume 62, Issue 5, Page 1280-1295, November 2025.
ABSTRACT Regulatory bodies in the U.S. and Europe recently approved a gene therapy for aromatic L‐amino acid decarboxylase (AADC) deficiency, a rare neurologic disorder where a genetic mutation prevents dopamine production in the brain. Affected children fail to develop normal motor and cognitive functions.
Dalton H. Bermudez, Thomas Lilieholm, Walter F. Block   +2 more
wiley   +1 more source

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy [PDF]

, 2013
For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective ...
Albert Ribera, Albert Ruzo, Anna Andaluz, Eduard Ayuso, Enns, Fatima Bosch, Federico Mingozzi, Gemma García-Fructuoso, Hemsley, Hemsley, Jesús Ruberte, Luca Maggioni, Maria Molas, Martí Pumarola, Mercedes Pineda, Miguel Garcia, Mingozzi, Pilar Villacampa, Sandra Motas, Sara Marcó, Sergio Muñoz, Sònia Añor, Virginia Haurigot   +22 more
core   +2 more sources

Mucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice

Clinical Genetics, Volume 108, Issue 5, Page 604-608, November 2025.
We report an individual with mucopolysaccharidosis type IIIB and chronic pancytopenia. Hematological studies in a mouse model revealed microcytic anemia and decreased monocyte count. Hence, pancytopenia is thought to be secondary to mucopolysaccharidosis type IIIB, and we suggest that a complete blood count should be included in the clinical ...
Éliane Beauregard‐Lacroix, Patricia Dubot, Alexey V. Pshezhetsky, Philippe M. Campeau   +3 more
wiley   +1 more source

Genetic Assessment of Mucopolysaccharidosis Type IV and the First Pathological Mutation of c.313A>G in the Iranian Population

, 2020
Aims Morquio syndrome is a mucopolysaccharidosis (type 4) that has autosomal recessive inheritance. Moreover, it is caused by defects in the two genes; GALNS (Murcio A) and GLB1 (Murcio B). The prevalence rate of this condition is estimated to be about 1
Seyed Mehdi Shafaat, M. Hashemi, A. Majd, M. Abiri, S. Zeinali   +4 more
semanticscholar   +1 more source