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2017 2
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Page 1
Alpha-Mannosidosis: Therapeutic Strategies.
Ceccarini MR, Codini M, Conte C, Patria F, Cataldi S, Bertelli M, Albi E, Beccari T. Ceccarini MR, et al. Int J Mol Sci. 2018 May 17;19(5):1500. doi: 10.3390/ijms19051500. Int J Mol Sci. 2018. PMID: 29772816 Free PMC article. Review.
Alpha-mannosidosis (alpha-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inheritance caused by mutations in the gene encoding for the lysosomal alpha-d-mannosidase. ...Similarly to other lysosomal storage diseases, there …
Alpha-mannosidosis (alpha-mannosidosis) is a rare lysosomal storage disorder with an autosomal recessive inherit …
Lysosomal alpha-mannosidase and alpha-mannosidosis.
Paciotti S, Codini M, Tasegian A, Ceccarini MR, Cataldi S, Arcuri C, Fioretti B, Albi E, Beccari T. Paciotti S, et al. Front Biosci (Landmark Ed). 2017 Jan 1;22(1):157-167. doi: 10.2741/4478. Front Biosci (Landmark Ed). 2017. PMID: 27814608 Free article. Review.
Mutations in the gene encoding for alpha-mannosidase cause alpha- mannosidosis, an autosomal recessive disease, resulting in the accumulation of unprocessed mannose containing oligosaccharide material. ...To develop this strategy a mouse model for alpha-ma …
Mutations in the gene encoding for alpha-mannosidase cause alpha- mannosidosis, an autosomal recessive disease, resulting in t …
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
Hennermann JB, Raebel EM, Donà F, Jacquemont ML, Cefalo G, Ballabeni A, Malm D. Hennermann JB, et al. Orphanet J Rare Dis. 2022 Jul 23;17(1):287. doi: 10.1186/s13023-022-02422-6. Orphanet J Rare Dis. 2022. PMID: 35871018 Free PMC article. Review.
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. ...CONCLUSIONS: This study suggests that pneumonia has been the primary cause of death during recent decades in untreated p …
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of al …
Comprehensive cardiopulmonary assessment in alpha 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
INTRODUCTION: alpha Mannosidosis is an extremely rare, progressive, and complex lysosomal storage disease, characterized by mental retardation, hearing impairment, coarse facial features, skeletal abnormalities, and pulmonary involvement. ...AIM AND METHODS: To asse …
INTRODUCTION: alpha Mannosidosis is an extremely rare, progressive, and complex lysosomal storage disease, characterized by me …
alpha-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.
Marins M, Curiati MA, Gomes CP, Martin RP, Nicolicht-Amorim P, Yamamoto JUDS, D'Almeida V, Martins AM, Pesquero JB. Marins M, et al. Orphanet J Rare Dis. 2024 Nov 26;19(1):439. doi: 10.1186/s13023-024-03419-z. Orphanet J Rare Dis. 2024. PMID: 39593065 Free PMC article.
The aim of this study was to search for alpha-mannosidosis cases in individuals with clinical suspicion of MPS without a confirmed diagnosis. ...CONCLUSION: In conclusion, this work brings data for the beginning of a genetic characterization of alpha-manno …
The aim of this study was to search for alpha-mannosidosis cases in individuals with clinical suspicion of MPS without a confi …
Retinal and optic nerve degeneration in alpha-mannosidosis.
Matlach J, Zindel T, Amraoui Y, Arash-Kaps L, Hennermann JB, Pitz S. Matlach J, et al. Orphanet J Rare Dis. 2018 Jun 1;13(1):88. doi: 10.1186/s13023-018-0829-z. Orphanet J Rare Dis. 2018. PMID: 29859105 Free PMC article.
BACKGROUND: alpha-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of alpha-mannosidase. ...METHODS: We report ocular findings of 32 patients with alpha-mannosidosis. We particularly concentrated on …
BACKGROUND: alpha-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of alp …
Pharmacological Chaperones for the Treatment of alpha-Mannosidosis.
Rísquez-Cuadro R, Matsumoto R, Ortega-Caballero F, Nanba E, Higaki K, García Fernández JM, Ortiz Mellet C. Rísquez-Cuadro R, et al. J Med Chem. 2019 Jun 27;62(12):5832-5843. doi: 10.1021/acs.jmedchem.9b00153. Epub 2019 May 2. J Med Chem. 2019. PMID: 31017416
alpha-Mannosidosis (AM) results from deficient lysosomal alpha-mannosidase (LAMAN) activity and subsequent substrate accumulation in the lysosome, leading to severe pathology. ...
alpha-Mannosidosis (AM) results from deficient lysosomal alpha-mannosidase (LAMAN) activity and subsequent substrate accumulat …
Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.
Šáhó R, Formánková R, Eisengart JB, Lund AM, Videbaek C, Gürbüz BB, Özbek NY, Al Jasmi F, Ješina P, Feillet F, Pochon C, Guémann AS, AlSayed M, Laktina S, Uçar SK, Aksoylar S, Lund TC, Orchard PJ, Eminoğlu FT, İleri T, Kasapkara ÇS, Yeşilipek A, Tuncel AT, Schulz A, Juríčková K, Hlavatá A, Santoro L, Magner M. Šáhó R, et al. J Inherit Metab Dis. 2025 Jul;48(4):e70047. doi: 10.1002/jimd.70047. J Inherit Metab Dis. 2025. PMID: 40551549
The outcomes of alpha-mannosidosis after hematopoietic stem cell transplantation (HSCT) are incompletely described. This retrospective multi-center study evaluated the outcomes of patients who underwent HSCT for their alpha-mannosidosis after 2010. Twe …
The outcomes of alpha-mannosidosis after hematopoietic stem cell transplantation (HSCT) are incompletely described. This retro …
Caregivers' and Physicians' Perspectives on Alpha-Mannosidosis: A Report from Italy.
Verrecchia E, Sicignano LL, Massaro MG, Rocco R, Silvestri G, Rossi S, Manna R. Verrecchia E, et al. Adv Ther. 2021 Jan;38(1):1-10. doi: 10.1007/s12325-020-01574-w. Epub 2020 Nov 24. Adv Ther. 2021. PMID: 33231860
Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. ...It is important to understand the challenges faced by patients and their caregiver up to and after a diagnosis of alpha-mannosidosis. In this report, …
Alpha-mannosidosis is a rare lysosomal storage disorder that generally presents in early childhood. ...It is important to unde …
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N. Guffon N, et al. Mol Genet Metab. 2024 Aug;142(4):108519. doi: 10.1016/j.ymgme.2024.108519. Epub 2024 Jun 23. Mol Genet Metab. 2024. PMID: 39024860 Free article.
INTRODUCTION: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices for initial assessment, routine follo …
INTRODUCTION: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosid …
45 results