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: Klank, Sabrina¹ (AUTHOR) marquat@uni-muenster.de, van Stein, Christina¹ (AUTHOR), Grüneberg, Marianne¹ (AUTHOR), Ottolenghi, Chris^2,3 (AUTHOR), Rauwolf, Kerstin K.^4,5 (AUTHOR), Grebe, Jürgen¹ (AUTHOR), Reunert, Janine¹ (AUTHOR), Harms, Erik¹ (AUTHOR), Marquardt, Thorsten¹ (AUTHOR)

المصدر: Pharmaceutics. Jul2023, Vol. 15 Issue 7, p1851. 13p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *CYSTEAMINE, *ETHYLCELLULOSE, *CYSTINE

المؤلفون: Jia, Weimin¹ (AUTHOR), Luo, Yalin¹ (AUTHOR), Zhang, Tengfei² (AUTHOR), Yang, Ying² (AUTHOR) 2607919765@qq.com, Zhang, Xianqin¹ (AUTHOR) xqzhang04@hust.edu.cn

المصدر: Neurological Sciences. Jul2023, Vol. 44 Issue 7, p2605-2608. 4p. 1 Color Photograph, 1 Diagram.

مصطلحات موضوعية: *GENETIC mutation, *LYSOSOMAL storage diseases, *AMINO acid residues, *FRAMESHIFT mutation, *AMINO acid sequence

المؤلفون: Cao, Xu¹ (AUTHOR), Lenk, Guy M.¹ (AUTHOR) glenk@umich.edu, Mikusevic, Vedrana² (AUTHOR), Mindell, Joseph A.² (AUTHOR), Meisler, Miriam H.¹ (AUTHOR)

المصدر: PLoS Genetics. 6/26/2023, Vol. 19 Issue 6, p1-19. 19p.

مصطلحات موضوعية: *GAIN-of-function mutations, *LYSOSOMAL storage diseases, *SCAFFOLD proteins

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

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: Celestina Vanaja, Maria¹, Jain, Jamal Mohammed Nurul¹, Dalal, Ashwin¹, Ranganath, Prajnya^1,2 prajnyaranganath@gmail.com

المصدر: Indian Journal of Medical Research. Jun2023, Vol. 157 Issue 6, p577-590. 19p.

مصطلحات موضوعية: *NUCLEOTIDE sequencing, *LYSOSOMAL storage diseases, *GENETIC testing, *GLYCOGEN storage disease type II, *ENZYME deficiency, *GENETIC variation

المؤلفون: El-Hage, Nazira¹ (AUTHOR) nelhage@fiu.edu, Haney, Matthew J.^2,3 (AUTHOR) mjhaney@email.unc.edu, Zhao, Yuling^2,3 (AUTHOR) cjswain@ad.unc.edu, Rodriguez, Myosotys¹ (AUTHOR) myrodrig@fiu.edu, Wu, Zhanhong⁴ (AUTHOR) zhhwu@ad.unc.edu, Liu, Mori³ (AUTHOR), Swain, Carson J.³ (AUTHOR), Yuan, Hong⁴ (AUTHOR) yuanh@ad.unc.edu, Batrakova, Elena V.^2,3 (AUTHOR) batrakov@ad.unc.edu

المصدر: Cells (2073-4409). Jun2023, Vol. 12 Issue 11, p1497. 24p.

مصطلحات موضوعية: *EXTRACELLULAR vesicles, *LYSOSOMAL storage diseases, *LABORATORY mice, *NEURONAL ceroid-lipofuscinosis, *ANIMAL disease models, *AUTOPHAGY, *VESICLES (Cytology)

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

المؤلفون: Yu, Meigen¹ (AUTHOR), Ye, Hui² (AUTHOR), De-Paula, Ruth B.³ (AUTHOR), Mangleburg, Carl Grant^4,5 (AUTHOR), Wu, Timothy^4,5 (AUTHOR), Lee, Tom V.² (AUTHOR), Li, Yarong² (AUTHOR), Duong, Duc⁶ (AUTHOR), Phillips, Bridget^7,8 (AUTHOR), Cruchaga, Carlos^7,8 (AUTHOR), Allen, Genevera I.^9,10 (AUTHOR), Seyfried, Nicholas T.⁶ (AUTHOR), Al-Ramahi, Ismael^4,10,11 (AUTHOR), Botas, Juan^3,4,10,11 (AUTHOR), Shulman, Joshua M.^1,2,4,10,11 (AUTHOR) Joshua.Shulman@bcm.edu

المصدر: PLoS Genetics. 5/18/2023, Vol. 19 Issue 5, p1-25. 25p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *RECESSIVE genes, *GAUCHER'S disease, *ALPHA-synuclein, *GENETIC variation, *HUMAN genetics, *DEEP brain stimulation