Search Results - "Wraith JE"

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation.

Authors: Cook, Andrew Stuart, Beth Ochoa-Ferraro, Antonio et al.

Source: Neurology & Therapy. Feb2026, Vol. 15 Issue 1, p447-456. 10p.

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases.

Authors: Akyüz, Ayşe Atalar, Hakan Çilesiz, Kübra et al.

Source: Journal of Clinical Research in Pediatric Endocrinology. Jun2026, Vol. 18 Issue 2, p1-6. 6p.

Author index to Volume 25.

Source: Bone Marrow Transplantation. 6/15/2000, Vol. 25 Issue 12, p1325. 8p.

Two-year follow-up after drug desensitization in mucopolysaccharidosis.

Authors: Spataro, Federico Ria, Roberto Chaoul, Nada et al.

Source: Orphanet Journal of Rare Diseases. 12/27/2024, Vol. 19 Issue 1, p1-4. 4p.

Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II.

Authors: Shamoun, Alex J. Reis, Gisienne Ashley, Malaica et al.

Source: PLoS ONE. 6/26/2025, Vol. 20 Issue 6, p1-16. 16p.

Novel Fundoscopic Features in Mucopolysaccharidosis Type VI: Multimodal Evaluation of Scleral Deposits.

Authors: Magalhães, Augusto Ribeiro, Margarida Meira, Jorge et al.

Source: Case Reports in Ophthalmology. Aug2024, Vol. 15 Issue 1, p642-647. 6p. 1 Illustration.

Therapeutic Potential of Mesenchymal Stem Cells in Niemann–Pick Disease.

Authors: Xu, Keli Yang, Minlin Guan, Lihong et al.

Source: Molecular Biotechnology. Mar2026, Vol. 68 Issue 3, p1068-1078. 11p.

Gaucher disease: the hematologist's perspective of a multisystemic disorder.

Authors: Costa A Mulas O Caocci G

Source: Annals of hematology [Ann Hematol] 2026 May 20; Vol. 105 (8). Date of Electronic Publication: 2026 May 20.

Publication Type: Journal Article; Review; Case Reports

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE

Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study.

Authors: Blin, Mélanie Tardieu, Marine Lacombe, Didier et al.

Source: Orphanet Journal of Rare Diseases. 11/12/2025, Vol. 20 Issue 1, p1-10. 10p.

Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.

Authors: Mungai, Lucy N. Wainaina Njeru, Charles Njoroge, Allan et al.

Source: Orphanet Journal of Rare Diseases. 11/4/2025, Vol. 20 Issue 1, p1-11. 11p.

Clinical Applications and Measurement Properties of the Digitized Archimedes Spiral Drawing Test: A Scoping Review.

Authors: Wang, Stella Schwirtlich, Tim McLaughlin, David et al.

Source: Movement Disorders Clinical Practice. Nov2025, Vol. 12 Issue 11, p1742-1755. 14p.

Clinical modeling of motor function to predict treatment efficacy and enable in silico treatment comparisons in infantile‐onset Pompe disease.

Authors: Rachedi, Fatiha Jreich, Rana Sparks, Susan et al.

Source: CPT: Pharmacometrics & Systems Pharmacology. Nov2025, Vol. 14 Issue 11, p1797-1809. 13p.

Safety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study.

Authors: Liang, Yan Yang, Yan-Ling Zou, Chao-Chun et al.

Source: Orphanet Journal of Rare Diseases. 10/29/2025, Vol. 20 Issue 1, p1-10. 10p.

Clinical outcomes in alpha-mannosidosis: a systematic review of therapeutic approaches.

Authors: Azzi A Shlhoob RB Al-Shehri H

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Jul 22; Vol. 21 (1). Date of Electronic Publication: 2026 Jul 22.

Publication Type: Journal Article; Systematic Review; Review

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Hypometabolism and atrophy patterns associated with Niemann-Pick type C.

Authors: Silva-Rodríguez, Jesús Castro, Cristina Cortés, Julia et al.

Source: EJNMMI Research. 2/26/2025, Vol. 15 Issue 1, p1-12. 12p.

Cutaneous Pebbling in Hunter Syndrome: A Distinctive Clinical Marker for Early Diagnosis.

Authors: Peethambaran, Akshay Sankar Purushothaman, Suruthi Munisamy, Malathi

Source: Indian Journal of Dermatopathology & Diagnostic Dermatology. Jan-Jun2026, Vol. 13 Issue 1, p12-14. 3p.

Efficacy and safety of a biosimilar laronidase versus the reference laronidase in patients with mucopolysaccharidosis type I.

Authors: Rabbani, Ali Alaei, Mohammadreza Asl, Samaneh Norouzi et al.

Source: Scientific Reports. 8/19/2025, Vol. 15 Issue 1, p1-10. 10p.

A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease.

Authors: Ren, Hong Zhang, Wei Ouyang, Yan et al.

Source: Orphanet Journal of Rare Diseases. 8/4/2025, Vol. 20 Issue 1, p1-12. 12p.

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.

Authors: Muenzer, Joseph Amartino, Hernan Giugliani, Roberto et al.

Source: Orphanet Journal of Rare Diseases. 7/1/2025, Vol. 20 Issue 1, p1-15. 15p.

Sleep Quality and Associated Respiratory Problems in Mucopolysaccharidosis: A Cross-sectional Study based on Parent Reports.

Authors: Uzunyayla, Gözde Karapınar, Fehime Erdem Güneş, Nihat et al.

Source: Journal of Pediatric Research. 2026, Vol. 13 Issue 1, p72-79. 8p.