المؤلفون: Nahya Awada, Martin Holcik

المصدر: JIMD Reports, Vol 65, Iss 2, Pp 63-84 (2024)

مصطلحات موضوعية: access, health care, lived experience, lysosomal storage diseases, orphan drugs, patient advocacy, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/23f5d62e598342ccbe0d29c2d484678dTest

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

المؤلفون: Yorran Hardman Araújo Montenegro, Francyne Kubaski, Franciele Barbosa Trapp, Mariluce Riegel-Giugliani, Carolina Fischinger Moura de Souza, Erlane Marques Ribeiro, Charles Marques Lourenço, Augusto César Cardoso-dos-Santos, Márcia Gonçalves Ribeiro, Chong Ae Kim, Matheus Augusto Araújo Castro, Emília Katiane Embiruçu, Carlos Eduardo Steiner, Filippo Pinto e Vairo, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar

المصدر: Genetics and Molecular Biology, Vol 47, Iss 1 (2024)

مصطلحات موضوعية: Sanfilippo syndrome, Mucopolysaccharidosis IIIB, MPS Brazil Network, lysosomal storage diseases, heparan sulfate, Brazil, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572024000100102&tlng=enTest; https://doaj.org/toc/1678-4685Test

الوصول الحر: https://doaj.org/article/9b14cf2be01d4608a40766f1a42dd646Test

المؤلفون: Al Zaabi, Nuha Nasser¹ (AUTHOR) nuha.alzaabi@ehs.gov.ae, Sirajum, Muneera² (AUTHOR), Al‐Wawi, Mohd Zaki² (AUTHOR), Al Suwaiji, Mohammed³ (AUTHOR)

المصدر: Clinical Case Reports. May2022, Vol. 10 Issue 5, p1-4. 4p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *MUCOPOLYSACCHARIDOSIS, *HEARING disorders, *DELETION mutation, *CEREBRAL ventricles, *GLYCOGEN storage disease type II

المؤلفون: Humble, Stewart Wynn

المساهمون: Wade-Martins, Richard, Ryan, Brent, Ward, Michael E.

مصطلحات موضوعية: Neurobiology, Genetics, CRISPR (Genetics), Lysosomes, Molecular neurobiology, Lysosomal storage diseases, Genetic engineering

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.886870Test

المؤلفون: Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi

المصدر: Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 41-56 (2023)

مصطلحات موضوعية: acid sphingomyelinase deficiency, lysosomal storage diseases, enzyme replacement therapy, niemann-pick disease, acid sphingomyelinase enzyme, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.ejmanager.com/fulltextpdf.php?mno=302656906Test; https://doaj.org/toc/1658-807XTest

الوصول الحر: https://doaj.org/article/9bc418cf35514541a8bc86a2a5233e2dTest

المؤلفون: Zahra Alsahlawi, Emtithal Aljishi, Ammar Kheyami, Ahmed Alekri, Sayed Mohammed Jawad Alwedaie

المصدر: JIMD Reports, Vol 63, Iss 6, Pp 614-620 (2022)

مصطلحات موضوعية: galactosialidosis, lysosomal storage diseases, pediatric metabolic diseases, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/d4ba50fcbf53415eb440d49badab702dTest

المؤلفون: Goodspeed, Kimberly¹ (AUTHOR), Feng, Cynthia² (AUTHOR), Laine, Minna³ (AUTHOR), Lund, Troy C.⁴ (AUTHOR) lundx072@umn.edu

المصدر: Journal of Child Neurology. Apr2021, Vol. 36 Issue 5, p403-414. 12p.

مصطلحات موضوعية: *RESPIRATORY infections, *LYSOSOMAL storage diseases, *HERNIA, *DIAGNOSIS, *INGUINAL hernia, *TONSILLITIS, *EAR infections

المؤلفون: Showalter, Megan R, Berg, Anastasia L, Nagourney, Alexander, Heil, Hailey, Carraway, Kermit L, Fiehn, Oliver

المصدر: International Journal of Molecular Sciences. 21(21)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Brain Disorders, Aetiology, Underpinning research, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Humans, Lysophospholipids, Lysosomal Storage Diseases, Lysosomes, Monoglycerides, bis(monoacylglycero)phosphate, lysobisphophatidic acid, lysosome, lipidomics, Other Chemical Sciences, Genetics, Other Biological Sciences, Chemical Physics, Biochemistry and cell biology, Microbiology, Medicinal and biomolecular chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7j45s3hnTest

المؤلفون: Heba Saed El-Amawy, Heba Dawoud

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Alpha-fucosidosis, Lysosomal storage diseases, COVID-19, Respiratory infection, Angiokeratoma, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-2441Test

الوصول الحر: https://doaj.org/article/7bbd4321572043caae33aac18825ad34Test