Results 91 to 100 of about 12,717 (199)

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

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

Genomic autopsy in neonatal‐onset mucopolysaccharidosis type VII: Key for diagnosis and future planning

Pediatrics International, Volume 68, Issue 1, January/December 2026.
Takashi Okuno, Masamichi Ikawa, Miori Yuasa, Akifumi Muramoto, Li Fu, Naomichi Matsumoto, Atsushi Watanabe   +6 more
wiley   +1 more source

Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

Journal of Inborn Errors of Metabolism and Screening, 2018
Mucopolysaccharidosis II (MPS II—Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in iduronate-2 sulfatase. Enzyme replacement therapy does not cross the blood–brain barrier (BBB), limiting the results in neurological ...
Anneliese L. Barth MD, PhD, Dafne D. G. Horovitz MD, PhD   +1 more
doaj   +1 more source

Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire

Journal of Patient-Reported Outcomes, 2019
Background Capturing the impact of caring for patients with debilitating rare disease is important for understanding disease burden. We aimed to develop and validate an instrument to measure the impact on caregivers of caring for children with three ...
Magdalena Harrington, Asha Hareendran, Anne Skalicky, Hilary Wilson, Marci Clark, Jaromir Mikl   +5 more
doaj   +1 more source

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID) [PDF]

, 1993
4-Methylumbelliferyl-α-N-acetylglucosamine 6-sulphate was synthesized and shown to be a substrate for the lysosomal N-acetylglucosamine-6-sulphate sulphatase (GlcNAc-6S sulphatase). Fibroblasts and leukocytes from 3 different Sanfilippo D patients showed
Boer, A.M., Diggelen, O.P. (Otto) van, He, W. (Wanyuan), Kleijer, W.J. (Wim), Voznyi, Y.V.   +4 more
core   +2 more sources

A Twist in the Diagnosis: Chronic Arthropathy Without Inflammation

Arthritis Care &Research, Volume 77, Issue 12, Page 1395-1402, December 2025.
María Á. Puche‐Larrubia, Inmaculada C. Aranda‐Valera, Alejandro Escudero‐Contreras, Rosa Roldán‐Molina   +3 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

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Orphanet Journal of Rare Diseases, 2019
Background A preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients.
Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Andrea Malfettone, José Pérez-García, Antonio Llombart-Cussac, Javier Cortés, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Marta Pérez-Quintana, Jordi Pérez-López   +10 more
doaj   +1 more source

Body Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate

Diagnostics
Introduction: Hematopoietic stem cell transplantation (HSCT) comprises one of the two main treatment regimens for patients with mucopolysaccharidoses (MPS).
Patryk Lipiński, Agnieszka Różdżyńska-Świątkowska, Agnieszka Ługowska, Jolanta Marucha, Katarzyna Drabko, Anna Tylki-Szymańska   +5 more
doaj   +1 more source