المؤلفون: Kuznetsov, Alexander¹ (AUTHOR), Sheshil, Andrey¹ (AUTHOR), Smolin, Eugene¹ (AUTHOR), Grudtsov, Vitaliy¹ (AUTHOR), Ryazantsev, Dmitriy¹ (AUTHOR), Shustinskiy, Mark¹ (AUTHOR), Tikhonova, Tatiana¹ (AUTHOR), Kitiashvili, Irakli² (AUTHOR), Vechorko, Valerii² (AUTHOR), Komarova, Natalia¹ (AUTHOR) nat.v.kom@gmail.com

المصدر: Sensors (14248220). Jun2024, Vol. 24 Issue 11, p3681. 12p.

مصطلحات موضوعية: *FIELD-effect transistors, *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *ENZYME replacement therapy, *NEWBORN screening, *COMPLEMENTARY metal oxide semiconductors

المؤلفون: ter Huurne, Menno^1,2,3 (AUTHOR), Parker, Benjamin L.^4,5 (AUTHOR), Liu, Ning Qing⁶ (AUTHOR), Qian, Elizabeth Ling¹ (AUTHOR), Vivien, Celine¹ (AUTHOR), Karavendzas, Kathy¹ (AUTHOR), Mills, Richard J.^1,2,7,8 (AUTHOR), Saville, Jennifer T.⁹ (AUTHOR), Abu-Bonsrah, Dad¹ (AUTHOR), Wise, Andrea F.¹⁰ (AUTHOR), Hudson, James E.⁷ (AUTHOR), Talbot, Andrew S.¹¹ (AUTHOR), Finn, Patrick F.¹² (AUTHOR), Martini, Paolo G.V.¹² (AUTHOR), Fuller, Maria⁹ (AUTHOR), Ricardo, Sharon D.¹⁰ (AUTHOR), Watt, Kevin I.^1,2,4 (AUTHOR), Nicholls, Kathy M.¹⁰ (AUTHOR), Porrello, Enzo R.^1,2,3,4,13 (AUTHOR) enzo.porrello@mcri.edu.au, Elliott, David A.^1,2,3,13,14 (AUTHOR) david.elliott@mcri.edu.au

المصدر: American Journal of Human Genetics. Sep2023, Vol. 110 Issue 9, p1600-1605. 6p.

مصطلحات موضوعية: *GALACTOSIDASES, *LYSOSOMAL storage diseases, *INDUCED pluripotent stem cells, *ANGIOKERATOMA corporis diffusum, *MESSENGER RNA, *RNA

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

المؤلفون: Keyzor, Ian¹ (AUTHOR) ikeyzor@amicusrx.com, Shohet, Simon¹ (AUTHOR), Castelli, Jeff² (AUTHOR), Sitaraman, Sheela² (AUTHOR), Veleva-Rotse, Biliana² (AUTHOR), Weimer, Jill M.³ (AUTHOR), Fox, Brian² (AUTHOR), Willer, Tobias³ (AUTHOR), Tuske, Steve³ (AUTHOR), Crathorne, Louise⁴ (AUTHOR), Belzar, Klara J.⁴ (AUTHOR)

المصدر: Biomolecules (2218-273X). Aug2023, Vol. 13 Issue 8, p1227. 23p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *ANGIOKERATOMA corporis diffusum, *ENZYME replacement therapy, *GLYCOGEN storage disease type II, *GAUCHER'S disease, *HEAT shock proteins

المؤلفون: Hwu, Wuh-Liang

المصدر: Journal of the Formosan Medical Association; Jul2024, Vol. 123 Issue 7, p738-743, 6p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, ENZYME replacement therapy, HYPERTROPHIC cardiomyopathy, LYSOSOMAL storage diseases, MOLECULAR diagnosis, GLYCOGEN storage disease type II, CARDIOMYOPATHIES

مصطلحات جغرافية: TAIWAN

المؤلفون: Moon, Stephanie S., Ovens, Christopher A., Reid, Gerard, Fraser, Clare L.

المصدر: Neuro-Ophthalmology; Jun2024, Vol. 48 Issue 3, p198-203, 6p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, GLYCOGEN storage disease type II, OPTICAL coherence tomography, CHRONIC kidney failure, LYSOSOMAL storage diseases, HEART failure, TREATMENT delay (Medicine)

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

المؤلفون: Duro, Giovanni, Anania, Monia, Zizzo, Carmela, Francofonte, Daniele, Giacalone, Irene, D'Errico, Annalisa, Marsana, Emanuela Maria, Colomba, Paolo

المصدر: International Journal of Molecular Sciences; May2024, Vol. 25 Issue 10, p5158, 9p

مصطلحات موضوعية: ANGIOKERATOMA corporis diffusum, X chromosome, WOMEN patients, LYSOSOMAL storage diseases, DIAGNOSIS, PATIENTS

العنوان البديل: When the skin mirrors the kidneys.

المؤلفون: Kalmi, Noura¹ noura.kalmii@gmail.com, Douhi, Zakia¹, Choukri, Souad¹, Baybay, Hanane¹, Elloudi, Sara¹, Soughi, Meryem¹, Mernissi, Fatima Zahra¹

المصدر: Cahiers Santé - Médecine Thérapeutique. nov/dec2023, Vol. 32 Issue 6, p330-332. 3p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *ANGIOKERATOMA, *SKIN diseases, *DERMATOLOGY

المؤلفون: Spiewak, Justyna¹ (AUTHOR) j.spiewak@ucl.ac.uk, Doykov, Ivan¹ (AUTHOR) i.doykov@ucl.ac.uk, Papandreou, Apostolos^1,2,3 (AUTHOR) apostolos.papandreou@alumni.ucl.ac.uk, Hällqvist, Jenny¹ (AUTHOR) j.hallqvist@ucl.ac.uk, Mills, Philippa¹ (AUTHOR) p.mills@ucl.ac.uk, Clayton, Peter T.¹ (AUTHOR) peter.clayton@ucl.ac.uk, Gissen, Paul^1,4 (AUTHOR) p.gissen@ucl.ac.uk, Mills, Kevin¹ (AUTHOR) kevin.mills@ucl.ac.uk, Heywood, Wendy E.¹ (AUTHOR) kevin.mills@ucl.ac.uk

المصدر: International Journal of Molecular Sciences. Jun2023, Vol. 24 Issue 12, p10177. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LIQUID chromatography-mass spectrometry, *ANGIOKERATOMA corporis diffusum, *NIEMANN-Pick diseases, *GAUCHER'S disease