المؤلفون: Yee, Karen S., Alexanderian, David, Martin, Susan, Olayinka-Amao, Bimpe, Whiteman, David A. H.

المصدر: Orphanet Journal of Rare Diseases; 4/12/2024, Vol. 19 Issue 1, p1-11, 11p

مصطلحات موضوعية: PATIENTS' attitudes, MEDICAL research personnel, LYSOSOMAL storage diseases, MUCOPOLYSACCHARIDOSIS, MISSENSE mutation

المؤلفون: Bakar, Asrar Abu, Shunmugarajoo, Haema, Nachiappan, Jeyaseelan P., Ismail, Intan Hakimah

المصدر: Pediatric Infection & Vaccine; Apr2024, Vol. 31 Issue 1, p122-129, 8p

مصطلحات موضوعية: CHEDIAK-Higashi syndrome, IMMUNODEFICIENCY, ALBINOS & albinism, HEMATOPOIESIS, LYSOSOMAL storage diseases

المؤلفون: Higashi, Kanako, Sonoda, Yuri, Kaku, Noriyuki, Fujii, Fumihiko, Yamashita, Fumiya, Lee, Sooyoung, Tocan, Vlad, Ebihara, Go, Matsuoka, Wakato, Tetsuhara, Kenichi, Sonoda, Motoshi, Chong, Pin Fee, Mushimoto, Yuichi, Kojima‐Ishii, Kanako, Ishimura, Masataka, Koga, Yuhki, Fukuta, Atsuhisa, Tsuchihashi, Nana Akagi, Kikuchi, Yoshikazu, Karashima, Takahito

المصدر: Molecular Genetics & Genomic Medicine; Apr2024, Vol. 12 Issue 4, p1-7, 7p

مصطلحات موضوعية: GAUCHER'S disease, LITERATURE reviews, ENZYME replacement therapy, LYSOSOMAL storage diseases, ENZYME deficiency

المؤلفون: Su, Yilin, Wei, Lijian, Wang, Lan, Xu, Pingyi, Mo, Mingshu

المصدر: Neurocase (Taylor & Francis Ltd); Apr2024, Vol. 30 Issue 2, p63-67, 5p

مصطلحات موضوعية: LITERATURE reviews, REPORTING of diseases, LYSOSOMAL storage diseases, GLYCOGEN storage disease type II, GENETIC mutation, MISSENSE mutation

المؤلفون: Latzman, Robert D., Campagne, Olivia, Modi, Meera E., Karas, Marta, Malanga, C. J., Whiteman, David A. H.

المصدر: CTS: Clinical & Translational Science; Apr2024, Vol. 17 Issue 4, p1-6, 6p

مصطلحات موضوعية: DRUG discovery, NATURAL history, COGNITIVE development, COGNITIVE ability, LYSOSOMAL storage diseases

المؤلفون: Regnier, Maitena, Flammier, Sacha, Boutaba, Mounia, Ndongo, Aliou Abdoulaye, Servais, Aude, Schaefer, Franz, Levtchenko, Elena, Bacchetta, Justine, Bertholet-Thomas, Aurélia

المصدر: Pediatric Nephrology; Apr2024, Vol. 39 Issue 4, p1113-1123, 11p

مصطلحات موضوعية: INBORN errors of metabolism diagnosis, HEALTH services accessibility, CROSS-sectional method, WORLD health, KIDNEY diseases, AMINES, LYSOSOMAL storage diseases, QUESTIONNAIRES, RESEARCH funding, INBORN errors of metabolism, HEALTH equity, RARE diseases

المؤلفون: Medaer, Louise, David, Dries, Smits, Maxime, Levtchenko, Elena, Sampaolesi, Maurilio, Gijsbers, Rik

المصدر: Cells (2073-4409); Apr2024, Vol. 13 Issue 7, p646, 20p

مصطلحات موضوعية: RECESSIVE genes, CYSTINE, LYSOSOMAL storage diseases, GENETIC mutation

المؤلفون: Li, Xinran, Xiang, Cong, Zhu, Shilei, Guo, Jiansheng, Liu, Chang, Wang, Ailian, Cao, Jin, Lu, Yan, Neculai, Dante, Xu, Pinglong, Feng, Xin-Hua

المصدر: Nature Communications; 3/22/2024, Vol. 15 Issue 1, p1-15, 15p

مصطلحات موضوعية: LYSOSOMAL storage diseases, REFORMATION, CHEMICAL libraries, SMALL molecules, HUMAN phenotype

المؤلفون: Ateş, Nurselin, Demir, Secil Akyildiz, Seyrantepe, Volkan

المصدر: Advances in Cell & Gene Therapy; 3/19/2024, Vol. 2024, p1-14, 14p

مصطلحات موضوعية: EXOCYTOSIS, NEURAMINIDASE, LYSOSOMAL storage diseases, CYCLODEXTRIN derivatives, SMALL molecules, GENETIC mutation, GENETIC code

المؤلفون: Chang, Shun-Chiao, Eichinger, Christian Stefan, Field, Polly

المصدر: European Journal of Medical Research; 3/18/2024, p1-26, 26p

مصطلحات موضوعية: NATURAL history, LEUKODYSTROPHY, LYSOSOMAL storage diseases, GLYCOGEN storage disease type II, EPILEPSY, NERVOUS system, MENTAL illness