المؤلفون: Lipiński, Patryk¹ (AUTHOR) patryk.lipinski.92@gmail.com, Tylki-Szymańska, Anna² (AUTHOR) a.tylki@ipczd.pl

المصدر: Diagnostics (2075-4418). Jun2024, Vol. 14 Issue 12, p1299. 11p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *SYMPTOMS, *GLYCOGEN storage disease type II, *NIEMANN-Pick diseases, *GAUCHER'S disease, *LIVER

المؤلفون: Muñoz-Oreja, Mikel^1,2,3 (AUTHOR), Sandoval, Abigail⁴ (AUTHOR), Bruland, Ove⁵ (AUTHOR), Perez-Rodriguez, Diego⁶ (AUTHOR), Fernandez-Pelayo, Uxoa¹ (AUTHOR), Arbina, Amaia Lopez de¹ (AUTHOR), Villar-Fernandez, Marina¹ (AUTHOR), Hernández-Eguiazu, Haizea¹ (AUTHOR), Hernández, Ixiar² (AUTHOR), Park, Yohan⁴ (AUTHOR), Goicoechea, Leire^7,8,9 (AUTHOR), Pascual-Frías, Nerea^1,10 (AUTHOR), Garcia-Ruiz, Carmen^7,8,9 (AUTHOR), Fernandez-Checa, Jose^7,8,9,11 (AUTHOR), Martí-Carrera, Itxaso^1,2,3,12 (AUTHOR), Gil-Bea, Francisco Javier¹ (AUTHOR), Hasan, Mazahir T^13,14 (AUTHOR), Gegg, Matthew E⁶ (AUTHOR), Bredrup, Cecilie^15,16 (AUTHOR), Knappskog, Per-Morten¹⁷ (AUTHOR)

المصدر: Brain: A Journal of Neurology. May2024, Vol. 147 Issue 5, p1899-1913. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CHOLESTEROL, *CHOLESTEROL metabolism, *CELL membranes, *GLYCOGEN storage disease type II

المؤلفون: Li, Joyce Wai-Yin¹ (AUTHOR), Yan, Kevin¹ (AUTHOR), Balijepalli, Chakrapani¹ (AUTHOR), Druyts, Eric¹ (AUTHOR) eric.druyts@pharmalyticsgroup.com

المصدر: Current Medical Research & Opinion. Apr2024, Vol. 40 Issue 4, p709-722. 14p.

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

المؤلفون: Jerves Serrano, Teodoro¹ (AUTHOR) teodoro.jervesserrano@yale.edu, Gold, Jessica² (AUTHOR) goldj@chop.edu, Cooper, James A.³ (AUTHOR) james.cooper@mft.nhs.uk, Church, Heather J.³ (AUTHOR) heather.church@mft.nhs.uk, Tylee, Karen L.³ (AUTHOR) karen.tylee@mft.nhs.uk, Wu, Hoi Yee³ (AUTHOR) hoiyee.wu@mft.nhs.uk, Kim, Sun Young⁴ (AUTHOR) sunyoung.kim@cchmc.org, Stepien, Karolina M.^5,6 (AUTHOR) teodoro.jervesserrano@yale.edu

المصدر: Journal of Clinical Medicine. Mar2024, Vol. 13 Issue 5, p1465. 19p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LIFE expectancy, *GLYCOGEN storage disease type II, *DIAGNOSIS, *MEMBRANE proteins, *METABOLIC disorders, *HEPATOMEGALY

المؤلفون: Byrne, Barry, Schoser, Benedikt, Kishnani, Priya, Bratkovic, Drago, Clemens, Paula, Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans, Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida, Johnson, Franklin, Das, Sheela, Wasfi, Yasmine, Mozaffar, Tahseen

المصدر: Journal of Neurology. 271(4)

مصطلحات موضوعية: n-Butyldeoxynojirimycin, Alpha glucosidases, Glycogen storage disease type II, Lysosomal storage diseases, Myozyme, Pharmacokinetics, Adult, Humans, Glycogen Storage Disease Type II, Treatment Outcome, alpha-Glucosidases, Indoles, Enzyme Replacement Therapy, Propionates, 1-Deoxynojirimycin

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4639m33cTest

المؤلفون: Truong, Kelvin^1,2 (AUTHOR) kelvin.truong@sydney.edu.au, Fong, Gloria^1,2 (AUTHOR), Lewis, Katherine³ (AUTHOR), Moghimi, Ali⁴ (AUTHOR), Prasad, Archana⁵ (AUTHOR), Hogan, Peter^1,2 (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

المؤلفون: Tóth, Gergő Dániel¹, Koplányi, Gábor², Kenéz, Balázs², Balogh-Weiser, Diána^1,2 balogh.weiser.diana@vbk.bme.hu

المصدر: Periodica Polytechnica: Chemical Engineering. 2023, Vol. 67 Issue 4, p624-635. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ENZYME replacement therapy, *GLYCOGEN storage disease type II, *ENZYME deficiency, *ANGIOKERATOMA corporis diffusum

المؤلفون: Schlotawa, L.¹ (AUTHOR), Matysiak, K.¹ (AUTHOR), Kettwig, M.¹ (AUTHOR), Ahrens-Nicklas, R. C.² (AUTHOR), Baud, M.³ (AUTHOR), Berulava, T.⁴ (AUTHOR), Brunetti-Pierri, N.^5,6 (AUTHOR), Gagne, A.^7,8 (AUTHOR), Herbst, Z. M.⁹ (AUTHOR), Maguire, J. A.^7,8 (AUTHOR), Monfregola, J.^5,6 (AUTHOR), Pena, T.^4,10 (AUTHOR), Radhakrishnan, K.¹¹ (AUTHOR), Schröder, S.⁴ (AUTHOR), Waxman, E. A.^2,8 (AUTHOR), Ballabio, A.^5,6,12 (AUTHOR), Dierks, T.¹¹ (AUTHOR), Fischer, A.^4,13,14 (AUTHOR), French, D. L.^7,8 (AUTHOR), Gelb, M. H.⁹ (AUTHOR)

المصدر: Neuropediatrics. 2023 Supplement 1, Vol. 54, pS1-S32. 32p.

مصطلحات موضوعية: *SULFATASES, *LYSOSOMAL storage diseases, *HIGH throughput screening (Drug development), *NEURODEGENERATION, *RESEARCH personnel, *GLYCOGEN storage disease type II

المؤلفون: Venkatarangan, Varsha¹, Weichao Zhang¹, Xi Yang¹, Thoene, Jess², Si Houn Hahn³, Ming Li¹ mlium@umich.edu

المصدر: Journal of Clinical Investigation. 10/2/2023, Vol. 133 Issue 19, p1-16. 16p.

مصطلحات موضوعية: *INDIVIDUALIZED medicine, *LYSOSOMAL storage diseases, *GLYCOGEN storage disease type II, *CHEMICAL testing, *CYSTINE, *PATHOGENESIS, *PULMONARY alveolar proteinosis

المؤلفون: San Millán-Tejado, Beatriz^1,2,3 (AUTHOR) beatriz.san.millan.tejado@sergas.es, Navarro, Carmen² (AUTHOR), Fernández-Martín, Julián^1,4 (AUTHOR) alberto.rivera.gallego@sergas.es, Rivera, Alberto^4,5 (AUTHOR), Viéitez, Irene¹ (AUTHOR) susana.teijeira.bautista@sergas.es, Teijeira, Susana¹ (AUTHOR), Ortolano, Saida¹ (AUTHOR) beatriz.san.millan.tejado@sergas.es

المصدر: Journal of Clinical Medicine. Sep2023, Vol. 12 Issue 17, p5689. 16p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *SKIN biopsy, *GLYCOGEN storage disease type II, *BIOPSY