Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients
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[1] Y. Takeshima,et al. Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan , 2021, Children.
[2] Y. Takeshima,et al. Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan , 2021, International journal of neonatal screening.
[3] C. Yuan,et al. Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study , 2020, Orphanet Journal of Rare Diseases.
[4] S. Messina,et al. New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges , 2020, Journal of clinical medicine.
[5] J. Darbà. Management and current status of spinal muscular atrophy: a retrospective multicentre claims database analysis , 2020, Orphanet Journal of Rare Diseases.
[6] P. Thokala,et al. The Effectiveness and Value of Treatments for Spinal Muscular Atrophy. , 2019, Journal of managed care & specialty pharmacy.
[7] L. Servais,et al. Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives , 2019, Therapeutics and clinical risk management.
[8] Dwi Putro Widodo,et al. Prevalensi, Spektrum Klinis dan Gambaran Neurofisiologi Kasus Neuromuskular , 2019, Sari Pediatri.
[9] L. Servais,et al. Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps , 2018, Developmental medicine and child neurology.
[10] W. Flanders,et al. Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States , 2017, Orphanet Journal of Rare Diseases.
[11] W. Chung,et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care , 2017, Neuromuscular Disorders.
[12] Y. Chien,et al. Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening , 2017, The Journal of pediatrics.
[13] W. Chung,et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state , 2017, Genetics in Medicine.
[14] E. Tizzano,et al. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain , 2017, Orphanet Journal of Rare Diseases.
[15] Hanns Lochmüller,et al. Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review , 2017, Orphanet Journal of Rare Diseases.
[16] H. Benali,et al. Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA , 2016, PloS one.
[17] J. Kissel,et al. Spinal Muscular Atrophy. , 2015, Neurologic clinics.
[18] Chia-Wei Lin,et al. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. , 2015, Pediatric neurology.
[19] F. Shapiro,et al. Simultaneous progression patterns of scoliosis, pelvic obliquity, and hip subluxation/dislocation in non-ambulatory neuromuscular patients: an approach to deformity documentation , 2015, Journal of children's orthopaedics.
[20] W. Arnold,et al. Spinal muscular atrophy: Diagnosis and management in a new therapeutic era , 2015, Muscle & nerve.
[21] P. Vondracek,et al. Health-related quality of life in children and adolescents with spinal muscular atrophy in the Czech Republic. , 2014, Pediatric neurology.
[22] N. Nagan,et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens , 2011, European Journal of Human Genetics.
[23] I. Hausmanowa-Petrusewicz,et al. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. , 2009, Acta biochimica Polonica.
[24] J. Melki,et al. Spinal muscular atrophy. , 1997, Current opinion in neurology.
[25] Teresa Foo,et al. : SYSTEMATIC LITERATURE REVIEW , 2004 .
[26] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..
[27] G. Haaker,et al. The Application of Clinical Genetics Dovepress Proximal Spinal Muscular Atrophy: Current Orthopedic Perspective , 2022 .