Search Results - "ZIMRAN, A"

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease by Biegstraaten, M., Cox, T.M., Belmatoug, N., Berger, M.G., Collin-Histed, T., Vom Dahl, S., Di Rocco, M., Fraga, C., Giona, F., Giraldo, P., Hasanhodzic, M., Hughes, D.A., Iversen, P.O., Kiewiet, A.I., Lukina, E., Machaczka, M., Marinakis, T., Mengel, E., Pastores, G.M., Plöckinger, U., Rosenbaum, H., Serratrice, C., Symeonidis, A., Szer, J., Timmerman, J., Tylki-Szymańska, A., Weisz Hubshman, M., Zafeiriou, D.I., Zimran, A., Hollak, C.E.M.

“…Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a…”
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Treatment patterns from 647 patients with Gaucher disease: An analysis from the Gaucher Outcome Survey by Deegan, P., Fernandez-Sasso, D., Giraldo, P., Lau, H., Panahloo, Z., Zimran, A.

“…The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease…”
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Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA‐related Parkinson's disease by Arkadir, D., Dinur, T., Becker Cohen, M., Revel‐Vilk, S., Tiomkin, M., Brüggemann, N., Cozma, C., Rolfs, A., Zimran, A.

“…Background and purpose Individuals with GBA (glucocerebrosidase) mutations are at increased risk of Parkinson's disease (PD). It is still debated, however,…”
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Sustained therapeutic effects of oral miglustat (Zavesca, N‐butyldeoxynojirimycin, OGT 918) in type I Gaucher disease by Elstein, D., Hollak, C., Aerts, J. M. F. G., Weely, S., Maas, M., Cox, T. M., Lachmann, R. H., Hrebicek, M., Platt, F. M., Butters, T. D., Dwek, R. A., Zimran, A.

“…It has been shown that treatment with miglustat (Zavesca, N‐butyldeoxynojirimycin, OGT 918) improves key clinical features of type I Gaucher disease after 1…”
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Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: An analysis of 798 patients from the ICGG Gaucher Registry by Fairley, C, Zimran, A, Phillips, M, Cizmarik, M, Yee, J, Weinreb, N, Packman, S

“…Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. The most prevalent mutant genotype in type I Gaucher…”
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P1633: LOW SERUM BDNF LEVELS ARE ASSOCIATED WITH LOWER PLATELETS’ CD62P REACTIVITY AND INCREASED BLEEDING TENDENCY IN PATIENTS WITH GAUCHER DISEASE by Azoulay, D., Naamad, M., Frydman, D., Broide, E., Zimran, A., Stemer, G., Revel‐Vilk, S.

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Anthropometric adjustments are helpful in the interpretation of BMD and BMC Z-scores of pediatric patients with Prader-Willi syndrome by Hangartner, T. N., Short, D. F., Eldar-Geva, T., Hirsch, H. J., Tiomkin, M., Zimran, A., Gross-Tsur, V.

“…Summary Anthropometric adjustments of bone measurements are necessary in Prader-Willi syndrome patients to correctly assess the bone status of these patients…”
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Early achievement and maintenance of the therapeutic goals using velaglucerase alfa in type 1 Gaucher disease by Elstein, D., Cohn, G.M., Wang, N., Djordjevic, M., Brutaru, C., Zimran, A.

“…Therapeutic goals have been described to monitor achievement, maintenance and continuity of therapeutic response in patients with type 1 Gaucher disease…”
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Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease by GIVOL, N., GOLDSTEIN, G., PELEG, O., SHENKMAN, B., ZIMRAN, A., ELSTEIN, D., KENET, G.

“…The risk of bleeding during dental procedures may be increased in patients with Gaucher disease. We aimed to evaluate potential coagulation and platelet…”
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The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement by Cox, T. M., Aerts, J. M. F. G., Andria, G., Beck, M., Belmatoug, N., Bembi, B., Chertkoff, R., Vom Dahl, S., Elstein, D., Erikson, A., Giralt, M., Heitner, R., Hollak, C., Hrebicek, M., Lewis, S., Mehta, A., Pastores, G. M., Rolfs, A., Sa Miranda, M. C., Zimran, A.

“…N‐Butyldeoxynojirimycin (NB‐DNJ, miglustat ‘Zavesca’) is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that…”
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Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease by van Dussen, L., Zimran, A., Akkerman, E.M., Aerts, J.M.F.G., Petakov, M., Elstein, D., Rosenbaum, H., Aviezer, D., Brill-Almon, E., Chertkoff, R., Maas, M., Hollak, C.E.M.

“…Taliglucerase alfa (Protalix Biotherapeutics, Israel) is a carrot-cell-expressed recombinant human beta-glucocerebrosidase recently approved in the United…”
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Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease? by Halperin, A., Elstein, D., Zimran, A.

“…Background –  A previous epidemiological survey from an American referral clinic noted a high incidence of neurological symptoms among patients with type I…”
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Mandibular and dental manifestations of Gaucher disease by Saranjam, HR, Sidransky, E, Levine, WZ, Zimran, A, Elstein, D

“…Oral Diseases (2012) 18, 421–429 Gaucher disease is a systemic lysosomal storage disorder with a high prevalence among Ashkenazi Jews. It is caused by an…”
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Occurrence of Parkinson's syndrome in type I Gaucher disease by Neudorfer, O, Giladi, N, Elstein, D, Abrahamov, A, Turezkite, T, Aghai, E, Reches, A, Bembi, B, Zimran, A

“…Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological…”
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Attitudes of couples identified through screening as carriers of Gaucher disease type 1 by Zuckerman, S, Lahad, A, Zimran, A, Levy-Lahad, E, Sagi, M

“…Gaucher disease (GD) type 1 is the most frequent autosomal recessive disorder among Ashkenazi Jews, but because the phenotype is tremendously variable,…”
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23 Beneficial effects of miglustat on skeletal symptoms in type I Gaucher disease: A meta-analysis by Pastores, Greg, Elstein, D., Hrebı´cek, M., Zimran, A.

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Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy by Platt, F. M., Jeyakumar, M., Andersson, U., Priestman, D. A., Dwek, R. A., Butters, T. D., Cox, T. M., Lachmann, R. H., Hollak, C., Aerts, J. M. F. G., Van Weely, S., Hrebícek, M., Moyses, C., Gow, I., Elstein, D., Zimran, A.

“…The glycosphingolipid (GSL) lysosomal storage diseases are caused by mutations in the genes encoding the glycohydrolases that catabolize GSLs within lysosomes…”
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Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study by Elstein, D., Doniger, G. M., Simon, E., Korn-Lubetzki, I., Navon, R., Zimran, A.

“…Summary Objectives To test neurocognitive function in patients with late-onset Tay–Sachs disease (LOTS) using a computerized system to assess whether cognition…”
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Response to Torralba and Pérez-Calbo by Fairley, C., Zimran, A., Phillips, M., Cizmarik, M., Yee, J., Weinreb, N., Packman, S.

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Uveitis and Fabry disease by Elstein, D, Altarescu, G, Zimran, A

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