المؤلفون: Mîndru, Dana Elena¹ (AUTHOR) mindru.dana@umfiasi.ro, Țarcă, Elena² (AUTHOR) elena.tuluc@umfiasi.ro, Braha, Elena Emanuela³ (AUTHOR) elenabraha@yahoo.com, Curpăn, Alexandrina-Ștefania⁴ (AUTHOR) elena.tuluc@umfiasi.ro, Roșu, Solange Tamara⁵ (AUTHOR) rosusolange@yahoo.com, Anton-Păduraru, Dana-Teodora¹ (AUTHOR) dana.anton@umfiasi.ro, Adumitrăchioaiei, Heidrun¹ (AUTHOR) ad.heidi91@gmail.com, Bernic, Valentin⁶ (AUTHOR) bernicvalik@yahoo.com, Pădureț, Ioana-Alexandra⁷ (AUTHOR) paduret.alexandra@gmail.com, Luca, Alina Costina¹ (AUTHOR) acluca@yahoo.com

المصدر: Diagnostics (2075-4418). Mar2024, Vol. 14 Issue 5, p491. 9p.

مصطلحات موضوعية: *CONGENITAL heart disease, *LYSOSOMAL storage diseases, *FIBRODYSPLASIA ossificans progressiva, *SYMPTOMS, *SKELETAL abnormalities, *GENETIC mutation

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: Chang, Shun-Chiao¹ (AUTHOR) shun-chiao.chang@takeda.com, Bergamasco, Aurore² (AUTHOR), Bonnin, Mélanie² (AUTHOR), Bisonó, Teigna Arredondo² (AUTHOR), Moride, Yola³ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 2/21/2024, Vol. 19 Issue 1, p1-15. 15p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *LEUKODYSTROPHY, *GENETIC disorders, *ARYLSULFATASES, *INVESTIGATIONAL drugs

مصطلحات جغرافية: MIDDLE East

المؤلفون: Martínez-Duncker, Iván, Doederlein-Schwartz, Ida Vanessa, Abreu-González, Melania, García-Ortiz, José Elías

المصدر: Frontiers in Genetics; 2024, p1-4, 4p

مصطلحات موضوعية: INBORN errors of metabolism, LYSOSOMES, GLYCOGEN storage disease type II, CONGENITAL myasthenic syndromes, LYSOSOMAL storage diseases

المؤلفون: Heroor, Aniruddh, Verma, Anshuman, Achanta, Divya Sree, Edward, Deepak Paul, Ramappa, Muralidhar

المصدر: Journal of Rare Diseases; 6/25/2024, Vol. 3 Issue 1, p1-12, 12p

مصطلحات موضوعية: CYSTINOSIS, OPTICAL coherence tomography, CONFOCAL microscopy, LYSOSOMAL storage diseases, POLYURIA

مصطلحات جغرافية: INDIA

المؤلفون: Zhang, Na, Liu, Fuchen, Zhao, Yuying, Sun, Xiaohan, Wen, Bing, Lu, Jian‐qiang, Yan, Chuanzhu, Li, Duoling

المصدر: Journal of Pathology; May2024, Vol. 263 Issue 1, p8-21, 14p

مصطلحات موضوعية: GLYCOGEN storage disease type II, GLYCOGEN storage disease, GLYCOGEN, LYSOSOMAL storage diseases, LYSOSOMES, GLYCOGEN phosphorylase

المؤلفون: Bellamy, Kim K. L., Skedsmo, Fredrik S., Hultman, Josefin, Jansen, Johan Høgset, Lingaas, Frode

المصدر: Animal Genetics; Aug2024, Vol. 55 Issue 4, p612-620, 9p

مصطلحات موضوعية: NEURONAL ceroid-lipofuscinosis, MISSENSE mutation, DOGS, LYSOSOMAL storage diseases, WHOLE genome sequencing, CENTRAL nervous system, DYSPLASIA

مصطلحات جغرافية: SUDAN

المؤلفون: Jovanovic, Ana, Miller-Hodges, Eve, Castriota, Felicia, Takyar, Shweta, Howitt, Heena, Ayodele, Olulade

المصدر: Orphanet Journal of Rare Diseases; 4/30/2024, Vol. 19, p1-37, 37p

مصطلحات موضوعية: QUALITY of life, ANGIOKERATOMA corporis diffusum, LYSOSOMAL storage diseases, ECONOMIC aspects of diseases, ECONOMIC databases

الشركة/الكيان: GREAT Britain. National Health Service

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

المؤلفون: Schwab, Marisa E, Brown, Julia EH, Lianoglou, Billie, Jin, Chengshi, Conroy, Patricia C, Gallagher, Renata C, Harmatz, Paul, MacKenzie, Tippi C

المصدر: Orphanet Journal of Rare Diseases. 17(1)

مصطلحات موضوعية: Genetics, Orphan Drug, Digestive Diseases, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, Pediatric, Good Health and Well Being, Attitude, Clinical Trials, Phase I as Topic, Enzyme Replacement Therapy, Female, Fetal Therapies, Glycogen Storage Disease Type II, Humans, Lysosomal Storage Diseases, Parents, Pregnancy, Surveys and Questionnaires, Lysosomal storage disease, Mucopolysaccharidosis, Fetal therapy, Enzyme replacement therapy, Gene therapy, Patient attitudes, Clinical trial, ELSI (ethical, legal and social implications), ELSI, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/79c7w0mvTest