المؤلفون: Hay Mele, Bruno¹ (AUTHOR) bruno.haymele@unina.it, Rossetti, Federica¹ (AUTHOR) fed.rossetti@studenti.unina.it, Cubellis, Maria Vittoria^1,2,3 (AUTHOR) cubellis@unina.it, Monticelli, Maria^1,2 (AUTHOR) m.monticelli@icb.cnr.it, Andreotti, Giuseppina² (AUTHOR)

المصدر: Genes. Mar2024, Vol. 15 Issue 3, p290. 17p.

مصطلحات موضوعية: *DRUG repositioning, *LYSOSOMAL storage diseases, *DRUG analysis, *GLYCOLIPIDS, *DRUG efficacy, *METABOLIC disorders

المؤلفون: Kulkarni, Akhil, Chen, Tiffany, Sidransky, Ellen, Han, Tae-Un

المصدر: Genes; Mar2024, Vol. 15 Issue 3, p364, 18p

مصطلحات موضوعية: GAUCHER'S disease, GENE therapy, VIRAL genes, ENZYME replacement therapy, LYSOSOMAL storage diseases, GENETIC vectors, DYSPLASIA

المؤلفون: Keller, Stefan H., Johnson, Gary S., Bullock, Garrett, Mhlanga-Mutangadura, Tendai, Schwartz, Malte, Pattridge, Savannah G., Guo, Juyuan, Kortz, Gregg D., Katz, Martin L.

المصدر: Genes; Feb2024, Vol. 15 Issue 2, p246, 27p

مصطلحات موضوعية: MYELIN proteins, MYELIN, NEURONAL ceroid-lipofuscinosis, LYSOSOMAL storage diseases, NEUROLOGICAL disorders, MYOCARDIUM

المؤلفون: Starcea, Iuliana Magdalena¹ (AUTHOR), Bodescu Amancei Ionescu, Lavinia¹ (AUTHOR), Lazaruc, Tudor Ilie¹ (AUTHOR), Lupu, Vasile Valeriu¹ (AUTHOR) valeriulupu@yahoo.com, Bogos, Roxana Alexandra¹ (AUTHOR), Ioniuc, Ileana¹ (AUTHOR), Dragan, Felicia² (AUTHOR), Lupu, Ancuta¹ (AUTHOR), Galatanu, Laura Stefana¹ (AUTHOR), Miron, Ingrith Crenguta¹ (AUTHOR), Mocanu, Adriana¹ (AUTHOR)

المصدر: Genes. Feb2023, Vol. 14 Issue 2, p516. 16p.

مصطلحات موضوعية: *CHRONIC kidney failure, *LYSOSOMAL storage diseases, *EXTRAPULMONARY tuberculosis, *NEUROLOGICAL disorders, *ANGIOKERATOMA corporis diffusum, *PALMS

المؤلفون: Ghafoor, Saima¹ (AUTHOR), Silveira, Karina da Costa² (AUTHOR), Qamar, Raheel^3,4 (AUTHOR), Azam, Maleeha¹ (AUTHOR) maleeha.azam@comsats.edu.pk, Kannu, Peter² (AUTHOR) maleeha.azam@comsats.edu.pk

المصدر: Genes. Oct2022, Vol. 13 Issue 10, pN.PAG-N.PAG. 12p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MUCOPOLYSACCHARIDOSIS, *PAKISTANIS, *SKELETAL dysplasia, *ENZYME deficiency

المؤلفون: Faro, Denise Cristiana, Losi, Valentina, Rodolico, Margherita Stefania, Torrisi, Elvira Mariateresa, Colomba, Paolo, Duro, Giovanni, Monte, Ines Paola

المصدر: Genes; Sep2023, Vol. 14 Issue 9, p1804, 27p

مصطلحات موضوعية: X chromosome, IMAGE analysis, ANGIOKERATOMA corporis diffusum, LYSOSOMAL storage diseases, SPECKLE tracking echocardiography, VENTRICULAR arrhythmia

المؤلفون: Senarathne, Udara D., Indika, Neluwa-Liyanage R., Jezela-Stanek, Aleksandra, Ciara, Elżbieta, Frye, Richard E., Chen, Cliff, Stepien, Karolina M.

المصدر: Genes; Apr2023, Vol. 14 Issue 4, p803, 21p

مصطلحات موضوعية: GENETIC disorders, METABOLIC disorders, LYSOSOMAL storage diseases, BODY fluid analysis, AUTISM spectrum disorders, BODY fluids

المؤلفون: Pasquetti, Domizia, Marangi, Giuseppe, Orteschi, Daniela, Carapelle, Marina, L'Erario, Federica Francesca, Venditti, Romina, Maietta, Sabrina, Battaglia, Domenica Immacolata, Contaldo, Ilaria, Veredice, Chiara, Zollino, Marcella

المصدر: Genes; Feb2023, Vol. 14 Issue 2, p245, 12p

مصطلحات موضوعية: MEDICAL genetics, NEURONAL ceroid-lipofuscinosis, LYSOSOMAL storage diseases, CEREBRAL atrophy, ANDROGEN receptors, MESSENGER RNA

المؤلفون: Cyske, Zuzanna, Gaffke, Lidia, Pierzynowska, Karolina, Węgrzyn, Grzegorz

المصدر: Genes; Apr2022, Vol. 13 Issue 4, p593-593, 17p

مصطلحات موضوعية: GENETIC regulation, GENE expression, LYSOSOMAL storage diseases, ENZYME replacement therapy, METHYL parathion, CELLULAR signal transduction

المؤلفون: Dardis, Andrea¹ andrea.dardis@asuiud.sanita.fvg.it, Buratti, Emanuele² buratti@icgeb.org

المصدر: Genes. Feb2018, Vol. 9 Issue 2, p73. 16p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MESSENGER RNA, *RNA splicing, *LYSOSOMES, *GENETIC mutation