يعرض 1 - 8 نتائج من 8 نتيجة بحث عن '"Kissell, Julie"', وقت الاستعلام: 0.36s تنقيح النتائج
  1. 1
    Academic Journal
    ELIKIDS: Baseline characteristics from the eliglustat substrate reduction therapy trial in children with Gaucher disease type 1 or type 3

    المؤلفون: Giraldo, Pilar, Gokcay, Gulden, Batsu, Isabela, Kissell, Julie, Perichon, Maria G., Drelichman, Guillermo I.

    المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107113 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2022.107113
    https://api.elsevier.com/content/article/PII:S1096719222005911?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719222005911?httpAccept=text/plain

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  2. 2
    Academic Journal
    Natural history of late-onset GM2 gangliosidosis: Four years of data collected at NTSAD annual conferences

    المؤلفون: Rochmann, Camille, Minini, Pascal, Kissell, Julie, Cox, Gerald, Eichler, Florian, Lau, Heather, Stephen, Christopher, Fischer, Tanya, Hamed, Alaa

    المصدر: Molecular Genetics and Metabolism ; volume 129, issue 2, page S136 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2019.11.357
    https://api.elsevier.com/content/article/PII:S1096719219312016?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719219312016?httpAccept=text/plain

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  3. 3
    Academic Journal
    Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.

    المؤلفون: Kissell, Julie1 (AUTHOR) julie.kissell@sanofi.com, Rochmann, Camille2 (AUTHOR), Minini, Pascal2 (AUTHOR), Eichler, Florian3 (AUTHOR), Stephen, Christopher D.3 (AUTHOR), Lau, Heather4 (AUTHOR), Toro, Camilo5 (AUTHOR), Johnston, Jean M.5 (AUTHOR), Krupnick, Robert6 (AUTHOR), Hamed, Alaa1 (AUTHOR), Cox, Gerald F.3,7 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Jul2024, Vol. 142 Issue 3, pN.PAG-N.PAG. 1p.

    مصطلحات موضوعية: *HEALTH outcome assessment, *FRIEDREICH'S ataxia, *DISEASE progression, *INTELLIGIBILITY of speech, *SYMPTOMS


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  4. 4
    Academic Journal
    Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive years

    المؤلفون: Puga, Ana C., Hamed, Alaa, Kissell, Julie, Minini, Pascal, Pabla, Anureet K., Kahn, Susan, Eichler, Florian, Stephen, Christopher D., Tifft, Cynthia J., Toro, Camilo, Johnston, Jean, Lau, Heather A., Haxton, Elizabeth, Gray-Edwards, Heather, Fischer, Tanya

    المصدر: Molecular Genetics and Metabolism ; volume 123, issue 2, page S122 ; ISSN 1096-7192

    الاتاحة: http://dx.doi.org/10.1016/j.ymgme.2017.12.330
    https://api.elsevier.com/content/article/PII:S1096719217311058?httpAccept=text/xml
    https://api.elsevier.com/content/article/PII:S1096719217311058?httpAccept=text/plain

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  5. 5
    Academic Journal
    Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.

    المؤلفون: Lyn, Nicole, Pulikottil-Jacob, Ruth, Rochmann, Camille, Krupnick, Robert, Gwaltney, Chad, Stephens, Nick, Kissell, Julie, Cox, Gerald F., Fischer, Tanya, Hamed, Alaa

    المصدر: Orphanet Journal of Rare Diseases; 4/15/2020, Vol. 15 Issue 1, p1-14, 14p

    مصطلحات موضوعية: BURDEN of care, RECESSIVE genes, QUALITATIVE research, STAIR climbing, ACTIVITIES of daily living, GENETIC disorders

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  6. 6
    Academic Journal
    Safety and pharmacokinetics of eliglustat administered with and without imiglucerase in pediatric participants with Gaucher disease type 1 and type 3: The ELIKIDS study.

    المؤلفون: Gokcay, Gulden1 (AUTHOR), Raiman, Julian A.2 (AUTHOR), Kissell, Julie3 (AUTHOR), Cherkasov, Dmitry4 (AUTHOR), Li, Ning5 (AUTHOR), Xu, Christine6 (AUTHOR), Xia, Binfeng7 (AUTHOR), Cil, Sefika Uslu3 (AUTHOR), de las Heras Montero, Javier Adolfo8 (AUTHOR), Batsu, Isabela6 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Feb2025, Vol. 144 Issue 2, pN.PAG-N.PAG. 1p.

    مصطلحات موضوعية: *GAUCHER'S disease, *PHARMACOKINETICS, *SAFETY


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  7. 7
    Academic Journal
    Efficacy of eliglustat administered with and without imiglucerase in pediatric participants with Gaucher disease type 1 or type 3: The ELIKIDS study.

    المؤلفون: Giraldo, Pilar1 (AUTHOR), Kor, Deniz2 (AUTHOR), Kissell, Julie3 (AUTHOR), Li, Ning4 (AUTHOR), Xu, Christine5 (AUTHOR), Cil, Sefika Uslu3 (AUTHOR), Drelichman, Guillermo I.6 (AUTHOR), Batsu, Isabela5 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Feb2025, Vol. 144 Issue 2, pN.PAG-N.PAG. 1p.

    مصطلحات موضوعية: *GAUCHER'S disease


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  8. 8
    Academic Journal
    Functional performance in patients with late-onset Tay-Sachs and Sandhoff diseases.

    المؤلفون: Cox, Gerald1, Eichler, Florian2, Sathe, Swati3, Kissell, Julie1, Hamed, Alaa1, Kahn, Susan4

    المصدر: Molecular Genetics & Metabolism. Feb2016, Vol. 117 Issue 2, pS37-S37. 1p.

    مصطلحات موضوعية: *SANDHOFF disease, *DIAGNOSIS, *TAY-Sachs disease, *GENETIC disorders, *MOLECULAR genetics, *TREATMENT of Tay-Sachs disease, *PATIENTS


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