يعرض 1 - 10 نتائج من 1,002 نتيجة بحث عن '"LYSOSOMAL storage diseases"', وقت الاستعلام: 0.99s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Mongolian spots in a sick patient—A diagnosis of infantile GM1 gangliosidosis.

    المؤلفون: Truong, Kelvin1,2 (AUTHOR) kelvin.truong@sydney.edu.au, Fong, Gloria1,2 (AUTHOR), Lewis, Katherine3 (AUTHOR), Moghimi, Ali4 (AUTHOR), Prasad, Archana5 (AUTHOR), Hogan, Peter1,2 (AUTHOR)

    المصدر: Australasian Journal of Dermatology. Nov2023, Vol. 64 Issue 4, p553-556. 4p.

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


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  2. 2
    دورية أكاديمية
    Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease.

    المؤلفون: Dobert, Jan Philipp, Bub, Simon, Mächtel, Rebecca, Januliene, Dovile, Steger, Lisa, Regensburger, Martin, Wilfling, Sibylle, Chen, Jia‐Xuan, Dejung, Mario, Plötz, Sonja, Hehr, Ute, Moeller, Arne, Arnold, Philipp, Zunke, Friederike

    المصدر: Advanced Science; 7/3/2024, Vol. 11 Issue 25, p1-18, 18p

    مصطلحات موضوعية: PARKINSON'S disease, MEMBRANE proteins, GAUCHER'S disease, LYSOSOMAL storage diseases, PEPTIDES

    النص الكامل

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  3. 3
    دورية أكاديمية
    No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant.

    المؤلفون: Capelli, Irene, Di Costanzo, Roberta, Aiello, Valeria, Lerario, Sarah, De Giovanni, Paola, Montevecchi, Marcello, Cerretani, Davide, Donadio, Vincenzo, La Manna, Gaetano, Mignani, Renzo

    المصدر: Molecular Genetics & Genomic Medicine; Jun2024, Vol. 12 Issue 6, p1-6, 6p

    مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, GENETIC variation, LYSOSOMAL storage diseases, SYMPTOMS, GLYCOSPHINGOLIPIDS

    النص الكامل

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  4. 4
    دورية أكاديمية
    Defect in degradation of glycogenin‐exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease.

    المؤلفون: Zhang, Na, Liu, Fuchen, Zhao, Yuying, Sun, Xiaohan, Wen, Bing, Lu, Jian‐qiang, Yan, Chuanzhu, Li, Duoling

    المصدر: Journal of Pathology; May2024, Vol. 263 Issue 1, p8-21, 14p

    مصطلحات موضوعية: GLYCOGEN storage disease type II, GLYCOGEN storage disease, GLYCOGEN, LYSOSOMAL storage diseases, LYSOSOMES, GLYCOGEN phosphorylase


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  5. 5
    دورية أكاديمية
    Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.

    المؤلفون: Zhong, Lin1 (AUTHOR), Gao, Xiaolan1 (AUTHOR), Wang, Yu1 (AUTHOR), Qiu, Wenjuan1 (AUTHOR), Han, Lianshu1 (AUTHOR), Gu, Xuefan1 (AUTHOR), Zhang, Huiwen1 (AUTHOR) zhanghuiwen@xinhuamed.com.cn

    المصدر: Clinical Genetics. Jun2023, Vol. 103 Issue 6, p655-662. 8p.

    مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS, *LYSOSOMAL storage diseases, *NOSOLOGY, *GENOTYPES, *CHINESE people, *DEEP brain stimulation

    مصطلحات جغرافية: CHINA


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  6. 6
    دورية أكاديمية
    Hypersensitivity reaction during enzyme replacement therapy in lysosomal storage disorders. A systematic review of desensitization strategies.

    المؤلفون: Spataro, Federico1 (AUTHOR) federico.spataro@uniba.it, Carlucci, Palma1 (AUTHOR), Loverre, Teresa1 (AUTHOR), Macchia, Luigi1 (AUTHOR), Di Bona, Danilo1 (AUTHOR)

    المصدر: Pediatric Allergy & Immunology. Jun2023, Vol. 34 Issue 6, p1-14. 14p.

    مصطلحات موضوعية: *ENZYME replacement therapy, *LYSOSOMAL storage diseases, *GLYCOGEN storage disease type II, *ALLERGIES, *TERMINATION of treatment, *ENZYME deficiency


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  7. 7
    دورية أكاديمية
    Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6.

    المؤلفون: Bellamy, Kim K. L., Skedsmo, Fredrik S., Hultman, Josefin, Jansen, Johan Høgset, Lingaas, Frode

    المصدر: Animal Genetics; Aug2024, Vol. 55 Issue 4, p612-620, 9p

    مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, MISSENSE mutation, DOGS, LYSOSOMAL storage diseases, WHOLE genome sequencing, CENTRAL nervous system, DYSPLASIA

    مصطلحات جغرافية: SUDAN


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  8. 8
    دورية أكاديمية
    Rapid and long‐lasting efficacy of high‐dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.

    المؤلفون: Higashi, Kanako, Sonoda, Yuri, Kaku, Noriyuki, Fujii, Fumihiko, Yamashita, Fumiya, Lee, Sooyoung, Tocan, Vlad, Ebihara, Go, Matsuoka, Wakato, Tetsuhara, Kenichi, Sonoda, Motoshi, Chong, Pin Fee, Mushimoto, Yuichi, Kojima‐Ishii, Kanako, Ishimura, Masataka, Koga, Yuhki, Fukuta, Atsuhisa, Tsuchihashi, Nana Akagi, Kikuchi, Yoshikazu, Karashima, Takahito

    المصدر: Molecular Genetics & Genomic Medicine; Apr2024, Vol. 12 Issue 4, p1-7, 7p

    مصطلحات موضوعية: GAUCHER'S disease, LITERATURE reviews, ENZYME replacement therapy, LYSOSOMAL storage diseases, ENZYME deficiency

    النص الكامل

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  9. 9
    دورية أكاديمية
    Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively‐driven reverse translation framework.

    المؤلفون: Latzman, Robert D., Campagne, Olivia, Modi, Meera E., Karas, Marta, Malanga, C. J., Whiteman, David A. H.

    المصدر: CTS: Clinical & Translational Science; Apr2024, Vol. 17 Issue 4, p1-6, 6p

    مصطلحات موضوعية: DRUG discovery, NATURAL history, COGNITIVE development, COGNITIVE ability, LYSOSOMAL storage diseases

    النص الكامل

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  10. 10
    دورية أكاديمية
    Npc1 gene mutation abnormally activates the classical Wnt signalling pathway in mouse kidneys and promotes renal fibrosis.

    المؤلفون: Guan, Lihong, Jia, Zisen, Xu, Keli, Yang, Minlin, Li, Xiaoying, Qiao, Liang, Liu, Yanli, Lin, Juntang

    المصدر: Animal Genetics; Feb2024, Vol. 55 Issue 1, p99-109, 11p

    مصطلحات موضوعية: WNT signal transduction, RENAL fibrosis, CELLULAR signal transduction, GENETIC mutation, LIPIDOSES, LYSOSOMAL storage diseases


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