يعرض 1 - 10 نتائج من 677 نتيجة بحث عن '"LYSOSOMAL storage diseases"', وقت الاستعلام: 0.86s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? – Chances and challenges.

    المؤلفون: Santhanakumaran, Vidiyaah1 (AUTHOR), Groeschel, Samuel1 (AUTHOR), Harzer, Klaus1 (AUTHOR), Kehrer, Christiane1 (AUTHOR), Elgün, Saskia1 (AUTHOR), Beck-Wödl, Stefanie2 (AUTHOR), Hengel, Holger3 (AUTHOR), Schöls, Ludger3 (AUTHOR), Haack, Tobias B.2 (AUTHOR), Krägeloh-Mann, Ingeborg1 (AUTHOR), Laugwitz, Lucia1,2 (AUTHOR) lucia.laugwitz@med.uni-tuebingen.de

    المصدر: Molecular Genetics & Metabolism. Nov2022, Vol. 137 Issue 3, p273-282. 10p.

    مصطلحات موضوعية: *ARYLSULFATASES, *LYSOSOMAL storage diseases, *LEUKODYSTROPHY, *PERIPHERAL nervous system, *MISSENSE mutation, *LYSOSOMES, *RECESSIVE genes


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  2. 2
    دورية أكاديمية
    Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity.

    المؤلفون: Nowak, Albina1,2 (AUTHOR) Albina.nowak@usz.ch, Dormond, Olivier3 (AUTHOR) Olivier.dormond@chuv.ch, Monzambani, Véronique4 (AUTHOR) Veronique.monzambani@chuv.ch, Huynh-Do, Uyen5 (AUTHOR) Uyen.huynh-do@insel.ch, Barbey, Frédéric1,4 (AUTHOR) Frederic.barbey@chuv.ch

    المصدر: Molecular Genetics & Metabolism. Sep2022, Vol. 137 Issue 1/2, p173-178. 6p.

    مصطلحات موضوعية: *GALACTOSIDASES, *LYSOSOMAL storage diseases, *TANDEM mass spectrometry, *ENZYME replacement therapy, *ANGIOKERATOMA corporis diffusum, *PATIENTS


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  3. 3
    دورية أكاديمية
    An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.

    المؤلفون: Germain, Dominique P.1 (AUTHOR), Altarescu, Gheona2 (AUTHOR), Barriales-Villa, Roberto3 (AUTHOR), Mignani, Renzo4 (NURSE), Pawlaczyk, Krzysztof5 (AUTHOR), Pieruzzi, Federico6,7 (AUTHOR), Terryn, Wim8 (AUTHOR), Vujkovac, Bojan9 (AUTHOR), Ortiz, Alberto1,10,11 (AUTHOR) aortiz@fjd.es

    المصدر: Molecular Genetics & Metabolism. Sep2022, Vol. 137 Issue 1/2, p49-61. 13p.

    مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *LIFE expectancy, *QUALITY of life, *CONSENSUS (Social sciences), *EXPERT evidence


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  4. 4
    دورية أكاديمية
    Therapies for lysosomal storage diseases: Principles, practice, and prospects for refinements based on evolving science.

    المؤلفون: Grabowski, Gregory A.1,2 (AUTHOR) grabgo317@comcast.net, Mistry, Pramod K.3 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Sep2022, Vol. 137 Issue 1/2, p81-91. 11p.

    مصطلحات موضوعية: *LYSOSOMAL storage diseases, *GLYCOGEN storage disease type II


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  5. 5
    دورية أكاديمية
    Unveiling a novel disease entity of lysosomal disorder family MBTPS1-related spondyloepimetaphyseal dysplasia with elevated lysosomal enzymes: A case series review.

    المؤلفون: Wang, Hua1 (AUTHOR), Wierenga, Andrea M.2 (AUTHOR), Wierenga, Klaas3 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Feb2024, Vol. 141 Issue 2, pN.PAG-N.PAG. 1p.

    مصطلحات موضوعية: *LYSOSOMAL storage diseases, *DYSPLASIA, *ENZYMES, *FAMILIES


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  6. 6
    دورية أكاديمية
    Newborn screening for lysosomal disorders: Three years of experience in Indiana.

    المؤلفون: Sapp, Katie1 (AUTHOR), Slack, Courtney1 (AUTHOR), McPheron, Molly1 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Feb2024, Vol. 141 Issue 2, pN.PAG-N.PAG. 1p.

    مصطلحات موضوعية: *LYSOSOMAL storage diseases, *NEWBORN screening

    مصطلحات جغرافية: INDIANA


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  7. 7
    دورية أكاديمية
    Filling the gap: Creation of a lysosomal disorders specific training programme for healthcare professionals.

    المؤلفون: Morris, Elizabeth1 (AUTHOR), Stewart, Catherine2 (AUTHOR), Finnegan, Niamh3 (AUTHOR), Forshaw-Hulme, Stuart L.4 (AUTHOR), Jopling, Louise5 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Feb2024, Vol. 141 Issue 2, pN.PAG-N.PAG. 1p.

    مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MEDICAL personnel


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  8. 8
    دورية أكاديمية
    Measuring the intangible cost of lysosomal disorders: Fabry disease, Gaucher disease type 3, and GM2 gangliosidosis.

    المؤلفون: Lyn, Nicole1 (AUTHOR), Ba, Sarah1 (AUTHOR), Graham, Christina A.2 (AUTHOR), Sowell, France3 (AUTHOR), Ruzich, Emily2 (AUTHOR), Krupnick, Robert2 (AUTHOR), Pulikottil-Jacob, Ruth4 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Feb2024, Vol. 141 Issue 2, pN.PAG-N.PAG. 1p.

    مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *GAUCHER'S disease, *COST


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  9. 9
    دورية أكاديمية
    Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry.

    المؤلفون: Mak, Justin1 (AUTHOR) jmak@stanfordhealthcare.org, Cowan, Tina M.1,2 (AUTHOR)

    المصدر: Molecular Genetics & Metabolism. Sep2021, Vol. 134 Issue 1/2, p43-52. 10p.

    مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MASS spectrometry, *LIQUID chromatography, *GAUCHER'S disease, *LIQUID chromatography-mass spectrometry, *OLIGOSACCHARIDES, *BIOMARKERS, *ION mobility spectroscopy


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  10. 10
    دورية أكاديمية
    MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses.

    المؤلفون: Soares, Luís Dias Ferreira1,2,3 (AUTHOR), Villalba Silva, Gerda Cristal2,3,4 (AUTHOR), Kubaski, Francyne5,6,7 (AUTHOR), Giugliani, Roberto2,5,6,7 (AUTHOR), Matte, Ursula1,2,3,4,5 (AUTHOR) umatte@hcpa.edu.br

    المصدر: Molecular Genetics & Metabolism. Aug2021, Vol. 133 Issue 4, p372-377. 6p.

    مصطلحات موضوعية: *DOGS, *LYSOSOMAL storage diseases, *DATA processing service centers, *MEDICAL personnel, *ENZYME deficiency, *ONTOLOGIES (Information retrieval)


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