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Akademický článek

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

Autor: Dehghan Manshadi M, Kamalidehghan B, Aryani O, Khalili E, Dadgar S, Tondar M, Ahmadipour F, Yong Meng G, Houshmand M

Publikováno v: Therapeutics and Clinical Risk Management, Vol Volume 13, Pp 725-731 (2017)

Masoumeh Dehghan Manshadi,1 Behnam Kamalidehghan,2,3 Omid Aryani,1 Elham Khalili,1 Sepideh Dadgar,1 Mahdi Tondar,4 Fatemeh Ahmadipour,5 Goh Yong Meng,6 Massoud Houshmand1,31Department of Medical Genetics, Special Medical Center, Tehran, Iran; 2Medica

Externí odkaz: https://doaj.org/article/d2b84d2229f94566b80dd08662d108f9

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Does CMV infection impact the virulence ofEnterococcus faecalis?

Autor: Justyna Gołębiewska, Jacek M. Witkowski, Alicja Dębska-Ślizień, Tomasz Jarzembowski, Bolesław Rutkowski, Agnieszka Daca

Publikováno v: Virulence

Renal transplant (RTx) recipients are at a high risk of infection caused by commensal bacteria. Apart from immunodeficiency resulting from the use of immunosuppression, RTx patients often suffer from various urological malformations, increasing susce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95317779c925ba66dde350bfc1ea0e11
https://doi.org/10.4161/viru.26315

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Kinetics and activity of arylsulfatase A in leukocytes derived from patients with cerebral palsy

Autor: SVJETLANA KALANJ BOGNAR, BLAZENKA FORETIC, IVANA FURAC, ZELJKA VUKELIC, ZDRAVKO GRUBESIC

Publikováno v: Acta Pharmaceutica
Volume 56
Issue 1

Activity and kinetics of arylsulfatase A (ASA, EC 3.1.6.8) were analyzed in leukocyte homogenates derived from patients suffering from cerebral palsy. Lower ASA activity was found in the patients' leukocytes than in controls, as determined by spectro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______951::2039249e5c2ce0053708d50157afaae3
https://hrcak.srce.hr/file/7479

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Kinetics and activity of arylsulfatase A in leukocytes derived from patients with cerebral palsy

Autor: Bognar, S. K., Foretić, B., Furač, I., Vukelić, Ž, Grubešić, Z.

Publikováno v: Scopus-Elsevier

Activity and kinetics of arylsulfatase A (ASA, EC 3.1.6.8) were analyzed in leukocyte homogenates derived from patients suffering from cerebral palsy. Lower ASA activity was found in the patients leukocytes, as determined by spectrophotometry using c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::68a9b0066f4a6d6c43148ddf2cccf7a4
https://www.bib.irb.hr/221232

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Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene

Autor: Massimo Pandolfo, Al Salviati, Matteo Bertelli, D. Randi, S. Gallo

Metachromatic leukodystrophy (MLD) rarely has its clinical onset in young adults, with a combination of cognitive and behavioural symptoms and peripheral neuropathy. Here we present an exceptional case with very late onset at 42 years of age and no c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb286dcc84d7ebd39c9f95509bc8899b
http://hdl.handle.net/11562/26630

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Akademický článek

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Akademický článek

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