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Autor:
A, Uttarilli, P, Ranganath, D, Matta, J, Md Nurul Jain, K, Prasad, A S, Babu, K M, Girisha, I C, Verma, S R, Phadke, K, Mandal, R D, Puri, S, Aggarwal, S, Danda, V H, Sankar, S, Kapoor, M, Bhat, K, Gowrishankar, A Q, Hasan, M, Nair, S, Nampoothiri, A, Dalal
Publikováno v:
Clinical genetics. 90(6)
Mucopolysaccharidoses (MPS), a subgroup of lysosomal storage disorders, are caused due to deficiency of specific lysosomal enzyme involved in catabolism of glycosaminoglycans. To date more than 200 pathogenic variants in the alpha-l-iduronidase (IDUA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::796142459676e5cada6694cf498779eb
https://pubmed.ncbi.nlm.nih.gov/27146977
https://pubmed.ncbi.nlm.nih.gov/27146977
Autor:
M D, Bashyam, A K, Chaudhary, M, Kiran, V, Reddy, H A, Nagarajaram, A, Dalal, L, Bashyam, D, Suri, A, Gupta, N, Gupta, M, Kabra, R D, Puri, R, RamaDevi, S, Kapoor, S, Danda
Publikováno v:
Clinical genetics. 86(6)
Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. In the largest ever study, we identified and characterized ASAH1 mutations from 11 independent Farber disease (FD) families. A t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5ec89c60159b74f662c6720fb78d69dd
https://pubmed.ncbi.nlm.nih.gov/24355074
https://pubmed.ncbi.nlm.nih.gov/24355074
Publikováno v:
Medical Journal Armed Forces India. 51:83-86
One hundred cases of enteric fever in the age group of 6 months to 12 years were analysed with respect to culture sensitivity pattern and treatment outcome. Patients were divided into 5 treatment groups – chloramphenicol, amoxycillin, trimethoprim-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bd05c0a825be7d20a2fce87f86aeb53
https://doi.org/10.1016/s0377-1237(17)30934-6
https://doi.org/10.1016/s0377-1237(17)30934-6