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Alpha-mannosidosis.
Malm D, Nilssen Ø. Malm D, et al. Orphanet J Rare Dis. 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. Orphanet J Rare Dis. 2008. PMID: 18651971 Free PMC article. Review.
Early educational intervention for development of social skills is needed and physiotherapy is important to improve bodily function. Orthopedic surgery may be necessary. The long-term prognosis is poor. There is an insidiously slow progression of neuromuscular and skeletal …
Early educational intervention for development of social skills is needed and physiotherapy is important to improve bodily function. Orthope …
Comprehensive cardiopulmonary assessment in α mannosidosis.
Nir V, Bentur L, Tal G, Gur M, Gut G, Ilivitzki A, Zucker-Toledano M, Hanna M, Toukan Y, Bar-Yoseph R. Nir V, et al. Pediatr Pulmonol. 2020 Sep;55(9):2348-2353. doi: 10.1002/ppul.24864. Epub 2020 Jun 26. Pediatr Pulmonol. 2020. PMID: 32445542
All five patients showed reduced peak oxygen uptake (median 23.1; range 20.4-32.2 mL/minute/kg, median %predicted 62; range %predicted 59-79). CONCLUSIONS: Pulmonary involvement is a known complication in this rare disease. ...
All five patients showed reduced peak oxygen uptake (median 23.1; range 20.4-32.2 mL/minute/kg, median %predicted 62; range %predi …
Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
Guffon N, Konstantopoulou V, Hennermann JB, Muschol N, Bruno I, Tummolo A, Ceravolo F, Zardi G, Ballabeni A, Lund A. Guffon N, et al. J Inherit Metab Dis. 2023 Jul;46(4):705-719. doi: 10.1002/jimd.12602. Epub 2023 Mar 13. J Inherit Metab Dis. 2023. PMID: 36849760 Clinical Trial.
Previous studies suggested that early VA treatment in children may produce greater clinical benefit over the disease course than starting treatment in adolescents or adults; however, long-term studies in children are limited, and very few studies include children under 6 y …
Previous studies suggested that early VA treatment in children may produce greater clinical benefit over the disease course than star …
Audiological and radiological study of eight polish patients with alpha-mannosidosis.
Iwanicka-Pronicka K, Guzek A, Sarnecki J, Tylki-Szymańska A. Iwanicka-Pronicka K, et al. Int J Pediatr Otorhinolaryngol. 2023 Jun;169:111556. doi: 10.1016/j.ijporl.2023.111556. Epub 2023 Apr 17. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37099947
The study group consisted of 8 AM patients: 6 males and 2 females, aged 2.5-37 yrs. The clinical course, dysmorphic ENT features, hearing status and the HRCT scans of the temporal bones were analyzed. ...
The study group consisted of 8 AM patients: 6 males and 2 females, aged 2.5-37 yrs. The clinical course, dysmorphic ENT features, hea …
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC, Klein A. Michalski JC, et al. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. doi: 10.1016/s0925-4439(99)00077-0. Biochim Biophys Acta. 1999. PMID: 10571005 Free article. Review.
Different clinical phenotypes generally characterize a specific disorder, which rather must be described as a continuum in severity, suggesting that other biochemical or environmental factors influence the course of the disease. This review provides details on clinical fea …
Different clinical phenotypes generally characterize a specific disorder, which rather must be described as a continuum in severity, suggest …
The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study.
Malm D, Riise Stensland HM, Edvardsen Ø, Nilssen Ø. Malm D, et al. J Inherit Metab Dis. 2014 Jan;37(1):79-82. doi: 10.1007/s10545-013-9622-2. Epub 2013 Jun 6. J Inherit Metab Dis. 2014. PMID: 23739775
Most alpha-mannosidosis patients described have been children and information on the natural course of the disorder has been based on a very limited number of observations. ...This study describes the progression of alpha-mannosidosis and may be helpful in determining the …
Most alpha-mannosidosis patients described have been children and information on the natural course of the disorder has been based on …
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice.
Stroobants S, Damme M, Van der Jeugd A, Vermaercke B, Andersson C, Fogh J, Saftig P, Blanz J, D'Hooge R. Stroobants S, et al. Neurobiol Dis. 2017 Oct;106:255-268. doi: 10.1016/j.nbd.2017.07.013. Epub 2017 Jul 15. Neurobiol Dis. 2017. PMID: 28720484
In the present functional study, ERT was initiated in 2-month-old immune-tolerant alpha-mannosidosis mice and continued for 9months. During the course of treatment, mice were trained in the Morris water maze task to assess spatial-cognitive performance, which was related t …
In the present functional study, ERT was initiated in 2-month-old immune-tolerant alpha-mannosidosis mice and continued for 9months. During …
Clinical manifestations of mannosidosis--a longitudinal study.
Yunis JJ, Lewandowski RC Jr, Sanfilippo SJ, Tsai MY, Foni I, Bruhl HH. Yunis JJ, et al. Am J Med. 1976 Dec;61(6):841-8. doi: 10.1016/0002-9343(76)90408-3. Am J Med. 1976. PMID: 1008071
In this work, a longitudinal study of five new patients is presented in an attempt to delineate the phenotype and clinical course of this unusual storage disease. The data on our patients and those in the literature indicate that people with mannosidosis appear normal at b …
In this work, a longitudinal study of five new patients is presented in an attempt to delineate the phenotype and clinical course of …
Alpha-mannosidosis: a report of 2 siblings and review of the literature.
Govender R, Mubaiwa L. Govender R, et al. J Child Neurol. 2014 Jan;29(1):131-4. doi: 10.1177/0883073812470973. Epub 2013 Jan 9. J Child Neurol. 2014. PMID: 23307885 Review.
She had a poor outcome. The second child has a less severe disease course. He is being managed symptomatically only because of the family's poor socioeconomic circumstances. Therapeutic options in this condition are limited to bone marrow transplant early in the disease …
She had a poor outcome. The second child has a less severe disease course. He is being managed symptomatically only because of the fa …
The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.
Hennermann JB, Guffon N, Cattaneo F, Ceravolo F, Borgwardt L, Lund AM, Gil-Campos M, Tylki-Szymanska A, Muschol NM. Hennermann JB, et al. Orphanet J Rare Dis. 2020 Sep 29;15(1):271. doi: 10.1186/s13023-020-01549-8. Orphanet J Rare Dis. 2020. PMID: 32993743 Free PMC article.
CONCLUSION: This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression o …
CONCLUSION: This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-manno …
34 results