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Year Number of Results
2008 2
2010 1
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2015 1
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Page 1
Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis.
Yang D, Ruan Y, Chen Y. Yang D, et al. J Paediatr Child Health. 2023 Mar;59(3):431-438. doi: 10.1111/jpc.16340. Epub 2023 Feb 1. J Paediatr Child Health. 2023. PMID: 36722610 Review.
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease which leads to progressive muscle weakness and atrophy. ...
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease which leads to progressive muscle weakness and atro …
Cystic fibrosis and neonatal screening.
Rodrigues R, Gabetta CS, Pedro KP, Valdetaro F, Fernandes MI, Magalhães PK, Januário JN, Maciel LM. Rodrigues R, et al. Cad Saude Publica. 2008;24 Suppl 4:s475-84. doi: 10.1590/s0102-311x2008001600002. Cad Saude Publica. 2008. PMID: 18797725 Free article. Review.
The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary disease among Caucasians (1:2,000 to 3,500). More than 1,000 mutations lead to the disease, the most common being "F508, with 70% pre …
The first references to cystic fibrosis date to the Middle Ages. Cystic fibrosis is the most frequent autosomal recessive hereditary …
Dialysis-treated end-stage kidney disease in Libya: epidemiology and risk factors.
Goleg FA, Kong NC, Sahathevan R. Goleg FA, et al. Int Urol Nephrol. 2014 Aug;46(8):1581-7. doi: 10.1007/s11255-014-0694-1. Epub 2014 Mar 27. Int Urol Nephrol. 2014. PMID: 24671275 Review.
The leading causes of ESKD were diabetic kidney disease (26.5 %), chronic glomerulonephritis (21.1 %), hypertensive nephropathy (14.6 %) and congenital/hereditary disease (12.3 %). The total number of dialysis centers was 40 with 61 nephrologists. ...
The leading causes of ESKD were diabetic kidney disease (26.5 %), chronic glomerulonephritis (21.1 %), hypertensive nephropathy (14.6 %) and …
Prevalence of Cardiovascular Complications in Individuals with Sickle Cell Anemia and Other Hemoglobinopathies: A Systematic Review.
Lopes A, Dantas MT, Ladeia AMT. Lopes A, et al. Arq Bras Cardiol. 2022 Dec;119(6):893-899. doi: 10.36660/abc.20220207. Arq Bras Cardiol. 2022. PMID: 36417618 Free PMC article. English, Portuguese.
BACKGROUND: Sickle cell anemia (SCA) is a hereditary disease whose cardiovascular complications are the main cause of death, the same being observed in other hemoglobinopathies. ...CONCLUSION: There is greater cardiovascular impairment in individuals with SCA than i …
BACKGROUND: Sickle cell anemia (SCA) is a hereditary disease whose cardiovascular complications are the main cause of death, t …
Costs, quality of life and treatment compliance associated with antibiotic therapies in patients with cystic fibrosis: a review of the literature.
Weiner JR, Toy EL, Sacco P, Duh MS. Weiner JR, et al. Expert Opin Pharmacother. 2008 Apr;9(5):751-66. doi: 10.1517/14656566.9.5.751. Expert Opin Pharmacother. 2008. PMID: 18345953 Review.
BACKGROUND: Cystic fibrosis is the most common incurable hereditary disease in the US. Persistent respiratory infection is the leading cause of morbidity and mortality in cystic fibrosis patients. ...
BACKGROUND: Cystic fibrosis is the most common incurable hereditary disease in the US. Persistent respiratory infection is the …
Cost-utility of new film-coated tablet formulation of deferasirox vs deferoxamine among major beta-thalassemia patients in Iran.
Saiyarsarai P, Khorasani E, Photogeraphy H, Ghaffari Darab M, Seyedifar M. Saiyarsarai P, et al. Medicine (Baltimore). 2020 Jul 10;99(28):e20949. doi: 10.1097/MD.0000000000020949. Medicine (Baltimore). 2020. PMID: 32664096 Free PMC article.
OBJECTIVES: Thalassemia is a hereditary disease, which caused economic burden in developing countries. ...
OBJECTIVES: Thalassemia is a hereditary disease, which caused economic burden in developing countries. ...
The prevalence of spinal muscular atrophy carrier in China: Evidences from epidemiological surveys.
Li C, Geng Y, Zhu X, Zhang L, Hong Z, Guo X, Xia C. Li C, et al. Medicine (Baltimore). 2020 Jan;99(5):e18975. doi: 10.1097/MD.0000000000018975. Medicine (Baltimore). 2020. PMID: 32000428 Free PMC article.
INTRODUCTION: Spinal muscular atrophy (SMA) was the second most fatal autosomal recessive hereditary disease in clinic. There had been no detailed study to characterize the prevalence of SMA carrier among people in China. ...
INTRODUCTION: Spinal muscular atrophy (SMA) was the second most fatal autosomal recessive hereditary disease in clinic. There …
Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.
Liu S, Hong X, Shen C, Shi Q, Wang J, Xiong F, Qiu Z. Liu S, et al. BMC Med Genet. 2015 Apr 21;16:26. doi: 10.1186/s12881-015-0171-4. BMC Med Genet. 2015. PMID: 25896430 Free PMC article. Review.
BACKGROUND: Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. ...
BACKGROUND: Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are …
12 results