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- William G. Mackenzie, MD
Nemours Children's Hospital, Delaware
1600 Rockland Road
Wilmington,
DE
19803
Education & Training
Fellowship
Pediatric Orthopedics - Nemours/Alfred I. duPont Hospital for Children, 1987
Internship
Rotating - Royal Victoria Hospital, 1981
Residency
Orthopedics - University of British Columbia, 1986
Board Certifications
American Board of Orthopaedic Surgery
Orthopedics
- Ulusaloglu, A. C., Asma, A., Rogers, K. J., Bowen, J. R., Mackenzie, W. G., & Mackenzie, W. G. S. (2022). Elongation-Derotation-Flexion Casting Treatment of Early-Onset Progressive Scoliosis in Skeletal Dysplasia. Journal of Pediatric Orthopaedics, 42(3), 229-233. doi:10.1097/BPO.0000000000002037
View Full Publication - Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., & Fredwall, S. O. (2022). International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology, 18(3), 173-189. doi:10.1038/s41574-021-00595-x
View Full Publication - Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., & Fredwall, S. O. (2022). International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology, 18(3), 173-189. doi:10.1038/s41574-021-00595-x
View Full Publication - Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., & Fredwall, S. O. (2022). International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology, 18(3), 173-189. doi:10.1038/s41574-021-00595-x
- Savarirayan, R., Tunkel, D. E., Sterni, L. M., Bober, M. B., Cho, T.-J., Goldberg, M. J., & on behalf of the Skeletal Dysplasia Management Consortium. (2021). Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia. Orphanet Journal of Rare Diseases, 16(1). doi:10.1186/s13023-021-01678-8
View Full Publication - Salazar-Torres, J. J., Church, C., Shields, T., Wade Shrader, M., Fisher, L., Mackenzie, W. G., & Stuart Mackenzie, W. G. (2021). Evaluation of gait pattern and lower extremity kinematics of children with morquio syndrome (Mps iv). Diagnostics, 11(8). doi:10.3390/diagnostics11081350
- Alhammoud, A., Othman, Y., El-Hawary, R., Mackenzie, W. G., & Howard, J. J. (2021). The impact of scoliosis surgery on pulmonary function in spinal muscular atrophy: a systematic review. Spine Deformity, 9(4), 913-921. doi:10.1007/s43390-021-00302-w
View Full Publication - Averill, L. W., Kecskemethy, H. H., Theroux, M. C., Mackenzie, W. G., Pizarro, C., Bober, M. B., & Tomatsu, S. (2021). Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. Pediatric Radiology, 51(7), 1202-1213. doi:10.1007/s00247-020-04946-0
View Full Publication - Georgiadis, A. G., Koester, T. M., MacKenzie, W. G., Nahm, N. J., Novotny, S. A., Rogers, K. J., & Walker, K. R. (2021). Intraoperative neurological monitoring in lower limb surgery for patients with mucopolysaccharidoses. Journal of Pediatric Orthopaedics, 41(3), 182-189. doi:10.1097/BPO.0000000000001720
View Full Publication - Savarirayan, R., Ireland, P., Irving, M., Thompson, D., Alves, I., Baratela, W. A. R., & Fredwall, S. O. (2022). International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. Nature Reviews Endocrinology, 18(3), 173-189. doi:10.1038/s41574-021-00595-x
- Bauer, J. M., Welling, S. E., Ross, K. E., MacKenzie, W. G. S., Larson, J. E., Leshikar, H., & Strauss, N. M. (2020). What Should i Wear to Clinic? A National Survey of Pediatric Orthopaedic Patients and Parents. Journal of Pediatric Orthopaedics, 40(10), E1010-E1016. doi:10.1097/BPO.0000000000001645
View Full Publication - White, K. K., White, K. K., Bober, M. B., Cho, T.-J., Goldberg, M. J., Goldberg, M. J., & Savarirayan, R. (2020). Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet Journal of Rare Diseases, 15(1). doi:10.1186/s13023-020-01415-7
View Full Publication - Pargas, C., Santana, A., Czoch, W. L., Rogers, K. J., & MacKenzie, W. G. (2020). Sprengel Deformity in Biological Sisters. Journal of the American Academy of Orthopaedic Surgeons Global Research and Reviews, 4(4). doi:10.5435/JAAOSGlobal-D-19-00120
View Full Publication - Hoover-Fong, J., Alade, A. Y., Ain, M., Berkowitz, I., Bober, M., Carter, E., & McGready, J. (2020). Blood pressure in adults with short stature skeletal dysplasias. American Journal of Medical Genetics, Part A, 182(1), 150-161. doi:10.1002/ajmg.a.61402
View Full Publication - Abousamra, O., Shah, S. A., Heydemann, J. A., Kreitz, T. M., Rogers, K. J., Ditro, C., & Mackenzie, W. G. (2019). Sagittal Spinopelvic Parameters in Children With Achondroplasia. Spine Deformity, 7(1), 163-170. doi:10.1016/j.jspd.2018.06.001
View Full Publication - Kuiper, G.-A., Langereis, E. J., Breyer, S., Carbone, M., Castelein, R. M., Eastwood, D. M., & Wijburg, F. A. (2019). Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: Results of an international consensus procedure. Orphanet Journal of Rare Diseases, 14(1). doi:10.1186/s13023-019-0997-5
View Full Publication - Cobanoglu, M., Shah, S. A., Gabos, P., Rogers, K., Yorgova, P., Neiss, G., & Mackenzie, W. G. (2019). Comparison of Intended Lengthening of Magnetically Controlled Growing Rods: Ultrasound Versus X-Ray. Journal of Pediatric Orthopaedics, 39(2), E141-E146. doi:10.1097/BPO.0000000000001072
View Full Publication - Stapleton, M., Hoshina, H., Sawamoto, K., Kubaski, F., Mason, R. W., Mackenzie, W. G., & Tomatsu, S. (2019). Critical review of current MPS guidelines and management. Molecular Genetics and Metabolism, 126(3), 238-245. doi:10.1016/j.ymgme.2018.07.001
View Full Publication - Bauer, J. M., Ditro, C. P., & Mackenzie, W. G. (2019). The Management of Kyphosis in Metatropic Dysplasia. Spine Deformity, 7(3), 494-500. doi:10.1016/j.jspd.2018.09.007
View Full Publication - Akyol, M. U., Alden, T. D., Amartino, H., Ashworth, J., Belani, K., Berger, K. I., & Scarpa, M. (2019b). Recommendations for the management of MPS VI: Systematic evidence- and consensus-based guidance. Orphanet Journal of Rare Diseases, 14(1). doi:10.1186/s13023-019-1080-y
View Full Publication - Fujitsuka, H., Sawamoto, K., Peracha, H., Mason, R. W., Mackenzie, W., Kobayashi, H., & Tomatsu, S. (2019). Biomarkers in patients with mucopolysaccharidosis type II and IV. Molecular Genetics and Metabolism Reports, 19. doi:10.1016/j.ymgmr.2019.100455
- Akyol, M. U., Alden, T. D., Amartino, H., Ashworth, J., Belani, K., Berger, K. I., & Scarpa, M. (2019a). Recommendations for the management of MPS IVA: Systematic evidence- A nd consensus-based guidance. Orphanet Journal of Rare Diseases, 14(1). doi:10.1186/s13023-019-1074-9
View Full Publication - Bayhan, I. A., Abousamra, O., Rogers, K. J., Bober, M. B., Miller, F., & Mackenzie, W. G. (2019). Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results. Journal of Pediatric Orthopaedics, 39(6), 282-288. doi:10.1097/BPO.0000000000000945
View Full Publication - Doherty, C., Stapleton, M., Piechnik, M., Mason, R. W., Mackenzie, W. G., Yamaguchi, S., & Tomatsu, S. (2019). Effect of enzyme replacement therapy on the growth of patients with Morquio A. Journal of Human Genetics, 64(7), 625-635. doi:10.1038/s10038-019-0604-6
View Full Publication - Jennings, S. E., Ditro, C. P., Bober, M. B., Mackenzie, W. G., Rogers, K. J., Conway, L., & Duker, A. L. (2019). Prevalence of mental health conditions and pain in adults with skeletal dysplasia. Quality of Life Research, 28(6), 1457-1464. doi:10.1007/s11136-019-02102-2
View Full Publication - Savarirayan, R., Bompadre, V., Bober, M. B., Cho, T.-J., Goldberg, M. J., Hoover-Fong, J., & on behalf of the Skeletal Dysplasia Management Consortium. (2019). Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genetics in Medicine, 21(9), 2070-2080. doi:10.1038/s41436-019-0446-9
View Full Publication - Abousamra, O., Kandula, V., Duker, A. L., Rogers, K. J., Bober, M. B., & Mackenzie, W. G. (2019). Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata. Journal of Pediatric Orthopaedics, 39(9), E680-E686. doi:10.1097/BPO.0000000000001014
View Full Publication - Mackenzie, W. G., & Abousamra, O. (2018). Gait changes in skeletal dysplasia. In Handbook of Human Motion (Vol 2-3, bll 1283-1288). doi:10.1007/978-3-319-14418-4_73
- Savarirayan, R., Rossiter, J. P., Hoover-Fong, J. E., Irving, M., Bompadre, V., Goldberg, M. J., & Skeletal Dysplasia Management Consortium. (2018). Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia. American Journal of Obstetrics and Gynecology, 219(6), 545-562. doi:10.1016/j.ajog.2018.07.017
View Full Publication - Strauss, K. A., Carson, V. J., Brigatti, K. W., Young, M., Robinson, D. L., Hendrickson, C., & Miller, F. (2018). Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults with Spinal Muscular Atrophy. Journal of Pediatric Orthopaedics, 38(10), e610-e617. doi:10.1097/BPO.0000000000001247
View Full Publication - Apkon, S. D., Alman, B., Birnkrant, D. J., Fitch, R., Lark, R., MacKenzie, W., & Sussman, M. (2018). Orthopedic and surgical management of the patient with Duchenne muscular dystrophy. Pediatrics, 142, S82-S89. doi:10.1542/peds.2018-0333J
View Full Publication - Santana, A., Serhan Er, M., & Mackenzie, W. G. (2018). Shelf acetabuloplasty using inner table of iliac bone as graft. In Pediatric Pelvic and Proximal Femoral Osteotomies: A Case-Based Approach (bll 135-140). doi:10.1007/978-3-319-78033-7_15
- Peracha, H., Sawamoto, K., Averill, L., Kecskemethy, H., Theroux, M., Thacker, M., & Tomatsu, S. (2018). Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA. Molecular Genetics and Metabolism, 125(1-2), 18-37. doi:10.1016/j.ymgme.2018.05.004
View Full Publication - White, K. K., Bompadre, V., Shah, S. A., Redding, G. J., Krengel, W. F., III, Mackenzie, W. G., & Children's Spine Study Group, Growing Spine Study Group. (2018). Early-Onset Spinal Deformity in Skeletal Dysplasias: A Multicenter Study of Growth-Friendly Systems. Spine Deformity, 6(4), 478-482. doi:10.1016/j.jspd.2018.01.002
View Full Publication - Doherty, C., Averill, L. W., Theroux, M., Mackenzie, W. G., Pizarro, C., Mason, R. W., & Tomatsu, S. (2018). Natural history of Morquio A patient with tracheal obstruction from birth to death. Molecular Genetics and Metabolism Reports, 14, 59-67. doi:10.1016/j.ymgmr.2017.11.005
- Liu, R. W., & Mackenzie, W. G. (2018). Skeletal dysplasias, connective tissue diseases, and other genetic disorders. In Orthopaedic Knowledge Update 12 (bll 811-834). Opgehaal van https://www.scopus.com/inward/record.uri?eid=2-s2.0-85059204111&partnerID=40&md5=1820176e14978477e5691eb206636c9d
- Bauer, J. M., & Mackenzie, W. (2018). Dysplasias in the child's cervical spine. In The Management of Disorders of the Child's Cervical Spine (bll 169-182). doi:10.1007/978-1-4939-7491-7_10
- Tager, D., Shah, S., & Mackenzie, W. G. (2018). Early-onset scoliosis in skeletal dysplasia. In Early Onset Scoliosis: A Clinical Casebook (bll 231-243). doi:10.1007/978-3-319-71580-3_18
- Brenn, B. R., Theroux, M. T., Shah, S. A., Mackenzie, W. G., Heinle, R., & Scavina, M. T. (2018). Critical airway stenosis in an adolescent male with pompe disease and thoracic lordosis: A case report. In 100 Selected Case Reports from Anesthesia and Analgesia. doi:10.1213/XAA.0000000000000564
View Full Publication - Gaebe, G., Kruse, R., Rogers, K., Mackenzie, W. G., & Holmes, L. (2018). Dynamic Lower Extremity Deformity in Children with Pseudoachondroplasia. Journal of Pediatric Orthopaedics, 38(3), 157-162. doi:10.1097/BPO.0000000000000798
View Full Publication - White, K. K., Bompadre, V., Goldberg, M. J., Bober, M. B., Cho, T.-J., Hoover-Fong, J. E., & On behalf of the Skeletal Dysplasia Management Consortium. (2017). Best practices in peri-operative management of patients with skeletal dysplasias. American Journal of Medical Genetics, Part A, 173(10), 2584-2595. doi:10.1002/ajmg.a.38357
View Full Publication - Stapleton, M., Sawamoto, K., Almeciga-Diaz, C. J., Mackenzie, W. G., Mason, R. W., Orii, T., & Tomatsu, S. (2017). Development of bone targeting drugs. International Journal of Molecular Sciences, 18(7). doi:10.3390/ijms18071345
View Full Publication - Theroux, M. C., Lopez, M., Olszewsky, P. J., DiCindio, S., Arai, L., Ditro, C., & Mackenzie, W. G. (2017). Metatropic dysplasia:�a skeletal dysplasia with challenging airway and other anesthetic concerns. Paediatric Anaesthesia, 27(6), 596-603. doi:10.1111/pan.13101
View Full Publication - del Pilar Duque Orozco, M., Record, N. C., Rogers, K. J., Bober, M. B., Mackenzie, W. G., & Atanda, A., Jr. (2017). Arthroscopic knee anatomy in young achondroplasia patients. Journal of Children's Orthopaedics, 11(3), 169-174. doi:10.1302/1863-2548.11.160168
- Khan, S., Almeciga-Diaz, C. J., Sawamoto, K., Mackenzie, W. G., Theroux, M. C., Pizarro, C., & Tomatsu, S. (2017). Mucopolysaccharidosis IVA and glycosaminoglycans. Molecular Genetics and Metabolism, 120(1-2), 78-95. doi:10.1016/j.ymgme.2016.11.007
View Full Publication - Serhan Er, M., Abousamra, O., Rogers, K., Akyol, Y., Palocaren, T., Takemitsu, M., & Mackenzie, W. G. (2017). Upper cervical fusion in children with spondyloepiphyseal dysplasia congenita. Journal of Pediatric Orthopaedics, 37(7), 466-472. doi:10.1097/BPO.0000000000000702
View Full Publication - Hamdy, R. C., Montpetit, K., Aiona, MacKenzie, W. G., Van Bosse, H. J. P., Narayanan, U., & Dahan-Oliel, N. (2016). Safety and efficacy of botulinum toxin a in children undergoing lower limb lengthening and deformity correction: Results of a double-blind, multicenter, randomized controlled trial. Journal of Pediatric Orthopaedics, 36(1), 48-55. doi:10.1097/BPO.0000000000000398
View Full Publication - White, K. K., Bompadre, V., Goldberg, M. J., Bober, M. B., Campbell, J. W., Cho, T.-J., & Savarirayan, R. (2016). Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. American Journal of Medical Genetics, Part A, 170(1), 42-51. doi:10.1002/ajmg.a.37394
View Full Publication - Atanda, A., Jr, Wallace, M., Bober, M. B., & Mackenzie, W. (2016). Arthroscopic treatment of discoid lateral meniscus tears in children with achondroplasia. Journal of Pediatric Orthopaedics, 36(5), e55-e58. doi:10.1097/BPO.0000000000000622
View Full Publication - Bayhan, I. A., Er, M. S., Nishnianidze, T., Ditro, C., Rogers, K. J., Miller, F., & MacKenzie, W. G. (2016). Gait pattern and lower extremity alignment in children with diastrophic dysplasia. Journal of Pediatric Orthopaedics, 36(7), 709-714. doi:10.1097/BPO.0000000000000530
View Full Publication - Helenius, I. J., Sponseller, P. D., Mackenzie, W., Odent, T., Dormans, J. P., Asghar, J., & Phillips, J. H. (2016). Outcomes of spinal fusion for cervical kyphosis in children with neurofibromatosis. Journal of Bone and Joint Surgery - American Volume, 98(21), e95. doi:10.2106/JBJS.16.00096
View Full Publication - Thacker, M. M., Davis, E. D., Ditro, C. P., & Mackenzie, W. (2016). Limb lengthening and deformity correction in patients with skeletal dysplasias. In Pediatric Lower Limb Deformities: Principles and Techniques of Management (bll 313-332). doi:10.1007/978-3-319-17097-8_19
- Tomatsu, S., Averill, L. W., Sawamoto, K., Mackenzie, W. G., Bober, M. B., Pizarro, C., & Theroux, M. (2016). Obstructive airway in Morquio A syndrome, the past, the present and the future. Molecular Genetics and Metabolism, 117(2), 150-156. doi:10.1016/j.ymgme.2015.09.007
View Full Publication - White, K. K., Savarirayan, R., Goldberg, M. J., Mackenzie, W., Bompadre, V., Bober, M. B., & Blackledge, M. (2016). Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?" American Journal of Medical Genetics, Part A, 170(4), 1101-1103. doi:10.1002/ajmg.a.37546
View Full Publication - Pourtaheri, S., Shah, S. A., Ditro, C. P., Holmes, L., Jr, & Mackenzie, W. G. (2016). Preoperative halo-gravity traction with and without thoracoscopic anterior release for skeletal dysplasia patients with severe kyphoscoliosis. Journal of Children's Orthopaedics, 10(2), 135-142. doi:10.1007/s11832-016-0721-0
- Bober, M. B., Duker, A. L., Carney, M., Ditro, C. P., Rogers, K., & Mackenzie, W. G. (2016). Metatropic dysplasia is associated with increased fracture risk. American Journal of Medical Genetics, Part A, 170(5), 1373-1376. doi:10.1002/ajmg.a.37576
View Full Publication - Yasuda, E., Suzuki, Y., Shimada, T., Sawamoto, K., Mackenzie, W. G., Theroux, M. C., & Tomatsu, S. (2016). Activity of daily living for Morquio A syndrome. Molecular Genetics and Metabolism, 118(2), 111-122. doi:10.1016/j.ymgme.2016.04.005
View Full Publication - Sawamoto, K., Suzuki, Y., Mackenzie, W. G., Theroux, M. C., Pizarro, C., Yabe, H., & Tomatsu, S. (2016). Current therapies for Morquio A syndrome and their clinical outcomes. Expert Opinion on Orphan Drugs, 4(9), 941-951. doi:10.1080/21678707.2016.1214572
- Hendriksz, C. J., Berger, K. I., Giugliani, R., Harmatz, P., Kampmann, C., Mackenzie, W. G., & Savarirayan, R. (2015). International guidelines for the management and treatment of Morquio a syndrome. American Journal of Medical Genetics, Part A, 167(1), 11-25. doi:10.1002/ajmg.a.36833
View Full Publication - Charrow, J., Alden, T. D., Breathnach, C. A. R., Frawley, G. P., Hendriksz, C. J., Link, B., & Theroux, M. (2015). Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome. Molecular Genetics and Metabolism, 114(1), 11-18. doi:10.1016/j.ymgme.2014.10.010
View Full Publication - Yasuda, E., Mackenzie, W. G., Ruhnke, K. D., Shimada, T., Mason, R. W., Zustin, J., & Tomatsu, S. (2015). Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: Clinical, biochemical, and pathological improvements. Molecular Genetics and Metabolism Reports, 2, 65-76. doi:10.1016/j.ymgmr.2014.12.006
- Mackenzie, W., & Lau, L.-L. (2015). Spinal manifestations of skeletal dysplasias. In The Growing Spine: Management of Spinal Disorders in Young Children, Second Edition (bll 335-358). doi:10.1007/978-3-662-48284-1_20
- Shimada, T., Tomatsu, S., Mason, R. W., Yasuda, E., Mackenzie, W. G., Hossain, J., & Orii, T. (2015). Di-sulfated keratan sulfate as a novel biomarker for mucopolysaccharidosis II, IVA, and IVB. In JIMD Reports (Vol 21, bll 1-13). doi:10.1007/8904_2014_330
- Tomatsu, S., Almeciga-Diaz, C. J., Montano, A. M., Yabe, H., Tanaka, A., Dung, V. C., & Orii, T. (2015). Therapies for the bone in mucopolysaccharidoses. Molecular Genetics and Metabolism, 114(2), 94-109. doi:10.1016/j.ymgme.2014.12.001
View Full Publication - Olney, R. C., Prickett, T. C. R., Espiner, E. A., Mackenzie, W. G., Duker, A. L., Ditro, C., & Bober, M. B. (2015). C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Journal of Clinical Endocrinology and Metabolism, 100(2), E355-E359. doi:10.1210/jc.2014-2814
View Full Publication - Tomatsu, S., Sawamoto, K., Almeciga-Diaz, C. J., Shimada, T., Bober, M. B., Chinen, Y., & Orii, T. (2015). Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with morquio a syndrome. Drug Design, Development and Therapy, 9, 1937-1953. doi:10.2147/DDDT.S68562
View Full Publication - Theroux, M. C., Fisher, A. O., Rodriguez, M. E., Brislin, R. P., Reichard, K. W., Shah, S. A., & Shaffer, T. H. (2015). Prophylactic methylprednisolone to reduce inflammation and improve outcomes from one lung ventilation in children: A randomized clinical trial. Paediatric Anaesthesia, 25(6), 587-594. doi:10.1111/pan.12601
View Full Publication - Akyol, Y., Averill, L. W., Atanda, A., Kecskemethy, H. H., Bober, M. B., & Mackenzie, W. G. (2015). Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. Pediatric Radiology, 45(6), 888-895. doi:10.1007/s00247-014-3228-1
View Full Publication - Stabley, D. L., Harris, A. W., Holbrook, J., Chubbs, N. J., Lozo, K. W., Crawford, T. O., & Butchbach, M. E. R. (2015). Smn1 and smn2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital pcr. Molecular Genetics and Genomic Medicine, 3(4), 248-257. doi:10.1002/mgg3.141
- Kubaski, F., Tomatsu, S., Patel, P., Shimada, T., Xie, L., Yasuda, E., & Shaffer, T. H. (2015). Non-invasive pulmonary function test on Morquio patients. Molecular Genetics and Metabolism, 115(4), 186-192. doi:10.1016/j.ymgme.2015.06.007
View Full Publication - Hurd, L., Kirwin, S. M., Boggs, M., Mackenzie, W. G., Bober, M. B., Funanage, V. L., & Duncan, R. L. (2015). A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia. American Journal of Medical Genetics, Part A, 167(10), 2286-2293. doi:10.1002/ajmg.a.37182
View Full Publication - Pruszczynski, B., Mackenzie, W. G., Rogers, K., & White, K. K. (2015). Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis. Clinical Orthopaedics and Related Research, 473(10), 3315-3320. doi:10.1007/s11999-015-4437-0
View Full Publication - Tomatsu, S., Sawamoto, K., Shimada, T., Bober, M. B., Kubaski, F., Yasuda, E., & Orii, T. (2015). Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): Effect and limitations. Expert Opinion on Orphan Drugs, 3(11), 1279-1290. doi:10.1517/21678707.2015.1086640
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