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

المؤلفون: Iyer, Neel S.¹ (AUTHOR), Gimovsky, Alexis C.² (AUTHOR), Ferreira, Carlos R.³ (AUTHOR), Critchlow, Elizabeth⁴ (AUTHOR), Al‐Kouatly, Huda B.⁵ (AUTHOR) huda.al-kouatly@jefferson.edu

المصدر: Clinical Genetics. Nov2021, Vol. 100 Issue 5, p493-503. 11p.

مصطلحات موضوعية: *HYDROPS fetalis, *LYSOSOMAL storage diseases, *GAUCHER'S disease, *ETIOLOGY of diseases, *DIAGNOSIS, *SIALIC acids

المؤلفون: Castelli, Vanessa¹ (AUTHOR) vanessa.castelli@univaq.it, Stamerra, Cosimo Andrea¹ (AUTHOR), d'Angelo, Michele¹ (AUTHOR), Cimini, Annamaria^1,2 (AUTHOR), Ferri, Claudio¹ (AUTHOR) claudio.ferri@cc.univaq.it

المصدر: Clinical Genetics. Sep2021, Vol. 100 Issue 3, p239-247. 9p.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *THERAPEUTICS, *PHENOTYPES, *KIDNEY failure

المؤلفون: Mahmoud, Iman G.¹ (AUTHOR), Elmonem, Mohamed A.² (AUTHOR) mohamed.abdelmonem@kasralainy.edu.eg, Zaki, Maha S.³ (AUTHOR), Ramadan, Areef¹ (AUTHOR), Al‐Menabawy, Nihal M.¹ (AUTHOR), El‐Gamal, Aya¹ (AUTHOR), Mansour, Lobna¹ (AUTHOR), Issa, Mahmoud Y.³ (AUTHOR), Abdel‐Hamid, Mohamed S.⁴ (AUTHOR), Abdel‐Hady, Sawsan¹ (AUTHOR), Khalifa, Iman⁵ (AUTHOR), Ibrahim, Ahmed⁶ (AUTHOR), Solyom, Alexander⁷ (AUTHOR), Rolfs, Arndt⁸ (AUTHOR), Selim, Laila¹ (AUTHOR)

المصدر: Clinical Genetics. Dec2020, Vol. 98 Issue 6, p598-605. 8p.

مصطلحات موضوعية: *CHILD patients, *LYSOSOMAL storage diseases, *PHENOTYPES, *DISEASES, *SPINE diseases

المؤلفون: Clarke, Lorne A.¹ (AUTHOR) lclarke@bcchr.ca, Giugliani, Roberto² (AUTHOR), Guffon, Nathalie³ (AUTHOR), Jones, Simon A.⁴ (AUTHOR), Keenan, Hillary A.⁵ (AUTHOR), Munoz‐Rojas, Maria V.⁵ (AUTHOR), Okuyama, Torayuki⁶ (AUTHOR), Viskochil, David⁷ (AUTHOR), Whitley, Chester B.^8,9 (AUTHOR), Wijburg, Frits A.¹⁰ (AUTHOR), Muenzer, Joseph¹¹ (AUTHOR)

المصدر: Clinical Genetics. Oct2019, Vol. 96 Issue 4, p281-289. 9p. 1 Diagram, 8 Charts.

مصطلحات موضوعية: *NEWBORN screening, *LYSOSOMAL storage diseases, *AGE of onset, *GENOTYPES, *MUCOPOLYSACCHARIDOSIS, *RECESSIVE genes

المؤلفون: Uttarilli, A.^1,2, Ranganath, P.^1,3, Matta, D.¹, Md Nurul Jain, J.¹, Prasad, K.¹, Babu, A.S.¹, Girisha, K.M.⁴, Verma, I.C.⁵, Phadke, S.R.⁶, Mandal, K.⁶, Puri, R.D.⁵, Aggarwal, S.^1,3, Danda, S.⁷, Sankar, V.H.⁸, Kapoor, S.⁹, Bhat, M.¹⁰, Gowrishankar, K.¹¹, Hasan, A.Q.¹², Nair, M.¹³, Nampoothiri, S.¹⁴

المصدر: Clinical Genetics. Dec2016, Vol. 90 Issue 6, p496-508. 13p. 3 Diagrams, 3 Charts, 1 Graph.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS, *LYSOSOMAL storage diseases, *METABOLISM, *GLYCOSAMINOGLYCANS, *GENETIC mutation

المؤلفون: Motta, M.¹, Tatti, M.², Furlan, F.³, Celato, A.³, Di Fruscio, G.^4,5, Polo, G.³, Manara, R.³, Nigro, V.^4,5, Tartaglia, M.¹, Burlina, A.³, Salvioli, R.²

المصدر: Clinical Genetics. Sep2016, Vol. 90 Issue 3, p220-229. 10p.

مصطلحات موضوعية: *PROTEIN deficiency, *LYSOSOMAL storage diseases, *GENETIC disorders in children, *GENETIC mutation, *AUTOPHAGY, *GENETICS, *DIAGNOSIS, INBORN errors of metabolism diagnosis

المؤلفون: Bauwens, Miriam, Storch, Stephan, Weisschuh, Nicole, Ceuterick‐de Groote, Chantal, De Rycke, Riet, Guillemyn, Brecht, De Jaegere, Sarah, Coppieters, Frauke, Van Coster, Rudy, Leroy, Bart P., De Baere, Elfride

المصدر: Clinical Genetics; Mar2020, Vol. 97 Issue 3, p426-436, 11p, 3 Diagrams, 4 Graphs

مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, TRANSMISSION electron microscopy, LYSOSOMAL storage diseases, SKIN biopsy, RETINAL diseases, LYSOSOMES, LOCUS (Genetics)

المؤلفون: Zampetti, A¹, Fania, L¹, Antuzzi, D², Giurdanella, F¹, Gnarra, M¹, Bertola, F³, Lualdi, S⁴, Filocamo, M⁴, Morrone, A^5,6, Feliciani, C¹

المصدر: Clinical Genetics. Sep2013, Vol. 84 Issue 3, p281-285. 5p. 2 Diagrams.

مصطلحات موضوعية: *ANGIOKERATOMA corporis diffusum, *LYSOSOMAL storage diseases, *X-linked genetic disorders, *GALACTOSIDASES, *MUCOPOLYSACCHARIDOSIS

المؤلفون: Coutinho, MF¹, Lacerda, L¹, Macedo-Ribeiro, S², Baptista, E¹, Ribeiro, H¹, Prata, MJ^3,4, Alves, S¹

المصدر: Clinical Genetics. Apr2012, Vol. 81 Issue 4, p379-393. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *NEURAMINIDASE, *GALACTOSIDASES, *CATHEPSINS, *GANGLIOSIDOSES, *GENETIC counseling, *PORTUGUESE people, *GENETICS