| 1 |
Hendriksz CJ, Burton B, Fleming TR, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis ⅣA): a phase 3 randomised placebo-controlled study[J]. J Inherit Metab Dis, 2014, 37 (6): 979-990.
|
| 2 |
Hendriksz CJ, Berger KI, Giugliani R, et al. Inter-national guidelines for the management and treatment of Morquio A syndrome[J]. Am J Med Genet A, 2015, 167A (1): 11-25.
|
| 3 |
Tomatsu S, Montano AM, Oikawa H, et al. Muco-polysaccharidosis type ⅣA (Morquio A disease): clinical review and current treatment[J]. Curr Pharm Biotechnol, 2011, 12 (6): 931-945.
|
| 4 |
Harmatz P, Mengel KE, Giugliani R, et al. The Mo-rquio A clinical assessment program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects[J]. Mol Genet Metab, 2013, 109 (1): 54-61.
|
| 5 |
Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland[J]. Hum Genet, 1997, 101 (3): 355-358.
|
| 6 |
Nelson J, Crowhurst J, Carey B, et al. Incidence of the mucopolysaccharidoses in Western Australia[J]. Am J Med Genet A, 2003, 123A (3): 310-313
|
| 7 |
Bhattacharya K, Balasubramaniam S, Choy YS, et al. Overcoming the barriers to diagnosis of Morquio A syndrome[J]. Orphanet J Rare Dis, 2014 (9): 192.
|
| 8 |
Aslam R, van Bommel ACM, Hendriksz CJ, et al. Subjective and objective assessment of hand function in Mucopolysaccharidosis Ⅳa patients[J]. JIMD Rep, 2013 (9): 59-65.
|
| 9 |
Dhawale AA, Church C, Henley J, et al. Gait pattern and lower extremity alignment in children with Morquio syndrome[J]. J Pediatr Orthop B, 2013, 22 (1): 59-62.
|
| 10 |
Kampmann C, Abu-Tair T, Gokce S, et al. Heart and cardiovascular involvement in patients with mucopolysaccharidosis type ⅣA (Morquio-a syndrome)[J]. PLoS One, 2016, 11 (9): e0162612.
|
| 11 |
Peracha H, Sawamoto K, Averill L, et al. Molecular genetics and metabolism, special edition: diagnosis, diagnosis and prognosis of mucopolysaccharidosis ⅣA[J]. Mol Genet Metab, 2018, 125 (1-2): 18-37.
|
| 12 |
Sawamoto K, Alvarez González JV, Piechnik M, et al. Mucopolysaccharidosis ⅣA: diagnosis, treatment, and management[J]. Int J Mol Sci, 2020, 21 (4): 1517.
|
| 13 |
Yabe H, Tanaka A, Chinen Y, et al. Hematopoietic stem cell transplantation for Morquio A syndrome[J]. Mol Genet Metab, 2016, 117 (2): 84-94.
|
| 14 |
Wang J, Luan Z, Jiang H, et al. Allogeneic he-matopoietic stem cell transplantation in thirty-four pediatric cases of mucopolysaccharidosis-a ten-year report from the China Children Transplant Group[J]. Biol Blood Marrow Transplant, 2016, 22 (11): 2104-2108.
|
| 15 |
Taylor M, Khan S, Stapleton M, et al. Hematopoietic stem cell transplantation for mucopolysaccharidoses: past, present, and future[J]. Biol Blood Marrow Transplant, 2019, 25 (7): e226-e246.
|
| 16 |
吴薇，罗小平. 黏多糖贮积症ⅣA型诊断与治疗进展[J]. 中华儿科杂志，2020，58(5):436-439.
|
| 17 |
Politei J, Porras-Hurtado GL, Guelbert N, et al. En-zyme replacement therapy interruption in mucopolysaccharidosis type ⅣA patients and its impact in different clinical outcomes[J]. JIMD Rep, 2021, 58 (1): 104-113.
|