Results 81 to 90 of about 9,431 (199)

Mucopolysaccharidosis IIID and Beta‐Mannosidosis in Brazilian Anglo‐Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT Beta mannosidosis and Mucopolysaccharidosis IIID are two autosomal recessive lysosomal storage diseases identified in Anglo‐Nubian goats. Even though they are well characterized from the clinical and molecular point of view, there is a gap in studies aiming to understand distribution and dissemination risk in goat populations throughout the ...
Flávia Caroline Moreira Bezerra, Lívia Samaniely Batista Pereira Belli, Joane Maíra Cavalcante Braga Novais, Adriana Mércia Guaratini Ibelli, Cássia Regina Oliveira Santos, Gisele Veneroni Gouveia, Alexandre Tadeu Mota Macedo, João José de Simoni Gouveia   +7 more
wiley   +1 more source

A case report of a patient with mucopolysaccharidosis type II [PDF]

, 2017
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an inborn error of metabolism due to lysosomal accumulation, with a recessive inheritance pattern linked to the X chromosome.
M.R. Rivera Vega, G. Pacheco Cuéllar, S.A. Cuevas-Covarrubias, H. García Vidaña   +3 more
core   +1 more source

Synthesis of a C‐2 Functionalized l‐Iduronic Acid Derivative as a Candidate Pharmacological Chaperone for MPS II (Hunter Syndrome)

Chemistry – An Asian Journal, Volume 21, Issue 11, 15 June 2026.
A C‐2 functionalized l‐iduronic acid derivative was designed and synthesized as a candidate pharmacological chaperone for iduronate‐2‐sulfatase (IDS), the enzyme involved in the lysosomal storage disease MPS II (Hunter syndrome). The synthesis overcomes significant synthetic challenges associated with manipulations of L‐ido scaffolds.
Vaibhavi Nagendra, Shifaza Mohamed, Nicholas W. See, Norbert Wimmer, Daniel Neumann, Paul J. Trim, Marten Snel, Aidan J. Brock, Jack K. Clegg, Neha S. Gandhi, Kim M. Hemsley, Adeline A. Lau, Vito Ferro   +12 more
wiley   +1 more source

Theranostic Advancements in Brain Cancer: Promising Approaches for Emerging Therapy

MedComm – Oncology, Volume 5, Issue 2, June 2026.
Strategies for improving intra‐arterial administration (A) and photodynamic therapy in brain cancer (B). Improving intra‐arterial (IA) administration and photodynamic therapy (PDT) for brain cancer involves enhancing tumor targeting and breaching the blood–brain barrier (BBB). Key strategies include super selective catheterization, using osmotic agents
Bipraban Khanra, Manoj Kumar Sarangi
wiley   +1 more source

Perinatal Gene Transfer to the Liver [PDF]

, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM, Ward, N.J., Buckley, S.M.K., Ward, NJ, Chan, J.K.Y., Waddington, S.N., Rahim, A.A., Waddington, SN, Rahim, AA, Chan, JK, Mckay, T.R., Howe, S.J., Howe, SJ, McKay, TR   +13 more
core   +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

Clinical presentation of mucopolysaccharidosis type II (Hunter′s syndrome)

Annals of Medical and Health Sciences Research, 2012
We present a rare case of mucopolysaccharidosis (MPS) with a typical presentation of mental retardation and absence of corneal clouding. The purpose of presenting this case report is to highlight the distinctive manifestation of MPS (Hunter's disease) and to provide a concise report of Hunter's disease for medical practitioners with the hope that such ...
Chinawa, JM, Adimora, GN, Obu, HA, Tagbo, B, Ujunwa, F, Onubogu, I   +5 more
openaire   +4 more sources

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

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

Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome) [PDF]

, 2008
We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) ( Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus.
CHEN, CHIH-PING;LIN, SHUAN-PEI;TZEN, CHIN-YUAN;HWU, WUH-LIANG;CHERN, SCHU-RERN;WANG, WAY-SEEN, 陳持平;林炫沛;曾岐元;胡務亮;陳樹人;王偉信   +1 more
core