يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Drelichman GI"', وقت الاستعلام: 0.81s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease.

    المؤلفون: Drelichman GI; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Fernández Escobar N; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Soberon BC; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Basack NF; Unidad de Hematología, Hospital de Niños 'Ricardo Gutiérrez', Ciudad Autónoma de Buenos Aires, Argentina., Frabasil J; Laboratorio de Neuroquímica 'Dr. N. A. Chamoles', Ciudad Autónoma de Buenos Aires, Argentina., Schenone AB; Laboratorio de Neuroquímica 'Dr. N. A. Chamoles', Ciudad Autónoma de Buenos Aires, Argentina., Aguilar G; Centro de Diagnóstico Dr. Rossi, Ciudad Autónoma de Buenos Aires, Argentina., Larroudé MS; Centro de Diagnóstico Dr. Rossi, Ciudad Autónoma de Buenos Aires, Argentina., Knight JR; Yale University Center for Genome Analysis, Yale School of Medicine, New Haven, CT, United States., Zhao D; Yale University Center for Genome Analysis, Yale School of Medicine, New Haven, CT, United States., Ruan J; Department of Internal Medicine, Yale School of Medicine, New Haven, CT. United States., Mistry PK; Department of Internal Medicine, Yale School of Medicine, New Haven, CT. United States.

    مؤلفون مشاركون: Argentine Group for Diagnosis and Treatment of Gaucher Disease

    المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2021 Nov 11; Vol. 29, pp. 100820. Date of Electronic Publication: 2021 Nov 11 (Print Publication: 2021).

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

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  2. 2
    دورية أكاديمية
    Retrospective epidemiological study of Latin American patients with transfusional hemosiderosis: the first Latin American epidemiological study in iron overload--the RELATH study.

    المؤلفون: Lobo C; Instituo Estadual de Hematologia Arthur de Siqueira Cavalcanti--HEMORIO, Rua Frei Caneca 8, Rio de Janeiro, Brazil. diretorio@hemorio.rj.gov.br, Angulo IL, Aparicio LR, Drelichman GI, Zanichelli MA, Cancado R

    مؤلفون مشاركون: RELATH Investigators

    المصدر: Hematology (Amsterdam, Netherlands) [Hematology] 2011 Sep; Vol. 16 (5), pp. 265-73.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 9708388 Publication Model: Print Cited Medium: Internet ISSN: 1607-8454 (Electronic) Linking ISSN: 10245332 NLM ISO Abbreviation: Hematology Subsets: MEDLINE

    مواضيع طبية MeSH: Transfusion Reaction*, Hemosiderosis/*epidemiology , Hemosiderosis/*etiology, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Chelation Therapy ; Child ; Child, Preschool ; Endocrine System Diseases/complications ; Female ; Ferritins/blood ; Heart Diseases/complications ; Hemoglobins/metabolism ; Hemosiderosis/complications ; Hemosiderosis/drug therapy ; Humans ; Iron Chelating Agents/therapeutic use ; Latin America/epidemiology ; Latin America/ethnology ; Liver Diseases/complications ; Male ; Middle Aged ; Registries ; Retrospective Studies ; Skin Pigmentation ; Young Adult

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