يعرض 1 - 10 نتائج من 47 نتيجة بحث عن '"LYSOSOMAL storage diseases"', وقت الاستعلام: 2.13s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation.

    المؤلفون: Jarisch, Andrea1 andrea.jarisch@kgu.de, Steward, Colin2, Sörensen, Jan1, Porto, Luciana3, Kieslich, Matthias4, Klingebiel, Thomas1, Bader, Peter1

    المصدر: European Journal of Pediatrics. Oct2014, Vol. 173 Issue 10, p1399-1403. 5p.

    مصطلحات موضوعية: *FARBER disease, *LYSOSOMAL storage diseases, *CENTRAL nervous system abnormalities, *RESPIRATORY infections, *MAGNETIC resonance imaging, *HEMATOPOIETIC stem cell transplantation


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  2. 2
    دورية أكاديمية
    Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

    المؤلفون: Zanetti, Alessandra, D'Avanzo, Francesca, Rigon, Laura, Rampazzo, Angelica, Concolino, Daniela, Barone, Rita, Volpi, Nicola, Santoro, Lucia, Lualdi, Susanna, Bertola, Francesca, Scarpa, Maurizio, Tomanin, Rosella

    المصدر: European Journal of Pediatrics; May2019, Vol. 178 Issue 5, p739-753, 15p, 3 Charts, 2 Graphs

    مصطلحات موضوعية: MOLECULAR diagnosis, GENETIC disorders, GENETIC counseling, LYSOSOMAL storage diseases, MEDICAL genetics, MISSENSE mutation


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  3. 3
    دورية أكاديمية
    Sisters with α-mannosidosis and systemic lupus erythematosus.

    المؤلفون: Urushihara, Maki1 urushi@tokushima-med.jrc.or.jp, Kagami, Shoji1, Yasutomo, Koji1, Ito, Michinori1, Kondo, Shuji1, Kitamura, Akiko1, Malm, Dag2, Klenow, Helle3, Nilssen, Oivind3, Kuroda, Yasuhiro1

    المصدر: European Journal of Pediatrics. 2004, Vol. 163 Issue 4/5, p192-195. 4p. 2 Color Photographs, 1 Graph.

    مصطلحات موضوعية: *MANNOSIDASES, *LYSOSOMAL storage diseases, *SISTERS, *CUTANEOUS tuberculosis, *LUPUS erythematosus, *RENAL biopsy, *DISEASES


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  4. 4
    دورية أكاديمية
    Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes.

    المؤلفون: Malm, Dag, Halvorsen, Dag S., Tranebjærg, Lisbeth, Sjursen, Haakon, Malm, D1 (AUTHOR), Halvorsen, D S (AUTHOR), Tranebjaerg, L (AUTHOR), Sjursen, H (AUTHOR)

    المصدر: European Journal of Pediatrics. 2000, Vol. 159 Issue 9, p699-703. 5p.

    مصطلحات موضوعية: *LYSOSOMAL storage diseases, *PHAGOCYTOSIS, *MONOCYTES, *IMMUNOLOGICAL deficiency syndrome complications, *COMPLEMENT (Immunology), *IMMUNOGLOBULINS, *LEUCOCYTES, *CASE-control method, *CELL receptors, *IMMUNOLOGICAL deficiency syndromes, *BLOOD


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  5. 5
    دورية أكاديمية
    Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease.

    المؤلفون: Kattner, Evelyn, Schäfer, A., Harzer, K.

    المصدر: European Journal of Pediatrics. 1997, Vol. 156 Issue 4, p292. 4p.

    مصطلحات موضوعية: *EDEMA, *LYSOSOMAL storage diseases


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  6. 6
    دورية أكاديمية
    Temporomandibular joint destruction in mucolipidosis type III necessitating gastrostomy insertion.

    المؤلفون: Zolkipli, Zarzuela1, Noimark, Lee1, Cleary, Maureen A.1, Owens, Cathy2, Vellodi, Ashok1 velloa@gosh.nhs.uk

    المصدر: European Journal of Pediatrics. Dec2005, Vol. 164 Issue 12, p772-774. 3p.

    مصطلحات موضوعية: *LYSOSOMAL storage diseases, *INBORN errors of metabolism, *TEMPOROMANDIBULAR disorders, *GASTROSTOMY, *BONE diseases, *DISEASE complications


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  7. 7
    دورية أكاديمية
    Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls.

    المؤلفون: Burton, Barbara, Giugliani, Roberto

    المصدر: European Journal of Pediatrics; Apr2012, Vol. 171 Issue 4, p631-639, 9p

    مصطلحات موضوعية: PEDIATRICS, MUCOPOLYSACCHARIDOSIS, LYSOSOMAL storage diseases, COGNITION disorders, PHYSICIANS


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  8. 8
    دورية أكاديمية
    Fabry disease in children and the effects of enzyme replacement treatment.

    المؤلفون: Pintos-Morell, Guillem, Beck, Michael

    المصدر: European Journal of Pediatrics; Nov2009, Vol. 168 Issue 11, p1355-1363, 9p, 2 Color Photographs, 1 Black and White Photograph, 1 Chart, 1 Graph

    مصطلحات موضوعية: GLYCOSPHINGOLIPIDS, METABOLISM, LYSOSOMAL storage diseases, SYMPTOMS, GENETIC disorders, ENZYMES, ISOENZYMES, GLYCOSIDASES, AUTONOMIC nervous system, COMBINATION drug therapy, CLINICAL trials, GASTROINTESTINAL diseases, HEART beat, KIDNEY function tests, CARDIOMYOPATHIES, PAIN, QUALITY of life, EVIDENCE-based medicine, TREATMENT effectiveness, ANGIOKERATOMA corporis diffusum, DIAGNOSIS, THERAPEUTICS


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  9. 9
    دورية أكاديمية
    Serial 1H-MRS in GM2 gangliosidoses.

    المؤلفون: Assadi, Mitra, Baseman, Susan, Janson, Christopher, Dah-Jyuu Wang, Bilaniuk, Larissa, Leone, Paola, Wang, Dah-Jyuu

    المصدر: European Journal of Pediatrics; Mar2008, Vol. 167 Issue 3, p347-352, 6p, 1 Black and White Photograph, 2 Charts, 2 Graphs

    مصطلحات موضوعية: GANGLIOSIDOSES, INTELLECTUAL disabilities, LYSOSOMAL storage diseases, NEURONS, INFLAMMATION, METABOLITES


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  10. 10
    دورية أكاديمية
    Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.

    المؤلفون: Wraith, J. Edmond, Scarpa, Maurizio, Beck, Michael, Bodamer, Olaf A., De Meirleir, Linda, Guffon, Nathalie, Lund, Allan Meldgaard, Malm, Gunilla, Van der Ploeg, Ans T., Zeman, Jiri, Meldgaard Lund, Allan

    المصدر: European Journal of Pediatrics; Mar2008, Vol. 167 Issue 3, p267-277, 11p, 1 Color Photograph, 1 Diagram, 2 Charts, 1 Graph

    مصطلحات موضوعية: MUCOPOLYSACCHARIDOSIS, CARBOHYDRATE metabolism disorders, LYSOSOMAL storage diseases, GLYCOSAMINOGLYCANS, ENZYMES


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