المؤلفون: Schwab, Marisa E.^1,2,3 (AUTHOR), Brown, Julia E. H.^4,5 (AUTHOR), Lianoglou, Billie^1,2 (AUTHOR), Jin, Chengshi⁶ (AUTHOR), Conroy, Patricia C.³ (AUTHOR), Gallagher, Renata C.^1,2,7 (AUTHOR), Harmatz, Paul^1,2,7 (AUTHOR), MacKenzie, Tippi C.^1,2,3 (AUTHOR) tippi.mackenzie@ucsf.edu

المصدر: Orphanet Journal of Rare Diseases. 1/29/2022, Vol. 17 Issue 1, p1-11. 11p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *PARENT attitudes, *PATIENTS' attitudes, *ENZYME replacement therapy, *LYSOSOMES, *GENE therapy, *PROGRESSION-free survival

مصطلحات جغرافية: UNITED States

المصدر: Black Book - The Long-View: 2010 Edition - U.S. Perspectives. May2010, p143-152. 10p. 2 Diagrams, 8 Charts, 2 Graphs.

مصطلحات موضوعية: *INDUSTRIES, *PHARMACEUTICAL industry, *BIOTECHNOLOGY industries, ORPHAN drugs, LYSOSOMAL storage diseases

مصطلحات جغرافية: UNITED States

الشركة/الكيان: BIOMARIN Pharmaceutical Inc. BMRN, ALEXION Pharmaceuticals Inc. 789359510 ALXN, GENZYME Corp. 025322157 GENZ

المؤلفون: Puckett, Yana, Mallorga-Hernández, Alejandra, Montaño, Adriana M.

المصدر: Orphanet Journal of Rare Diseases; 5/29/2021, Vol. 16 Issue 1, p1-10, 10p

مصطلحات موضوعية: MEDICAL personnel, NEWBORN screening, MEDICAL statistics, EPIDEMIOLOGY, LYSOSOMAL storage diseases, MEDICAL registries

مصطلحات جغرافية: UNITED States

الشركة/الكيان: NATIONAL Center for Health Statistics (U.S.)

المؤلفون: Liu, Yang¹ yang_liu@meei.harvard.edu, Kam, Wendy R.¹, Ding, Juan¹, Sullivan, David A.¹

المصدر: Toxicology. Jun2014, Vol. 320, p1-5. 5p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *AZITHROMYCIN, *EYE diseases, *DRUG side effects, *CLINICAL trials, *LIPIDS, *MEIBOMIAN glands, *DISEASES

مصطلحات جغرافية: UNITED States

المؤلفون: Matern, Dietrich^1,2,3, Oglesbee, Devin^1,2, Tortorelli, Silvia^1,2

المصدر: Developmental Disabilities Research Reviews. 2012, Vol. 17 Issue 3/4, p247-253. 7p. 1 Diagram, 2 Charts.

مصطلحات موضوعية: *NEWBORN screening, *LYSOSOMAL storage diseases, *REGIONAL medical programs, *ADRENOLEUKODYSTROPHY, *PUBLIC health, *DIAGNOSIS, DIAGNOSIS of neonatal diseases

مصطلحات جغرافية: UNITED States

المؤلفون: Tilmant, K.^1,2 Karen.Tilmant@ucb.com, Gerets, H.H.J.¹ Helga.Gerets@ucb.com, Dhalluin, S.¹ Stephane.Dhalluin@ucb.com, Hanon, E.¹ Etienne.Hanon@ucb.com, Depelchin, O.¹ Olympe.Depelchin@ucb.com, Cossu-Leguille, C.² Cossu@univ-metz.fr, Vasseur, P.² Vasseur@univ-metz.fr, Atienzar, F.A.¹ Franck.Atienzar@ucb.com

المصدر: Toxicology in Vitro. Oct2011, Vol. 25 Issue 7, p1414-1424. 11p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *DRUG development, *MEDICAL imaging systems, *DIMETHYL sulfoxide, *LIVER cells, *ELECTRON microscopy, *GENE expression

مصطلحات جغرافية: UNITED States

الشركة/الكيان: UNITED States. Food & Drug Administration

المؤلفون: Edelmann, Lisa, Dong, Jianli, Desnick, Robert J., Kornreich, Ruth

المصدر: American Journal of Human Genetics. Apr2002, Vol. 70 Issue 4, p1023. 5p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *GENES, *GENETIC mutation

مصطلحات جغرافية: NEW York (State), UNITED States

المؤلفون: Blum, Karen karen_blum@verizon.net

المصدر: Journal of Cell Biology. 12/21/2015, Vol. 211 Issue 6, p1-2. 2p.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *TRANSCRIPTION factors, *SCIENTISTS

مصطلحات جغرافية: UNITED States

الشركة/الكيان: NATIONAL Cholesterol Education Program (U.S.)

People: PUERTOLLANO, Rosa

المؤلفون: Chamlin, Sarah L.

المصدر: Pediatric Dermatology; Mar/Apr2004, Vol. 21 Issue 2, p182-188, 7p

مصطلحات موضوعية: MEETINGS, PEDIATRIC dermatology, LYSOSOMAL storage diseases, MELANOCYTES

مصطلحات جغرافية: SEATTLE (Wash.), WASHINGTON (State), UNITED States

المؤلفون: Heartlein, Michael¹

المصدر: Drug Discovery & Development. Apr2010, Vol. 13 Issue 3, p11-11. 1p. 1 Diagram.

مصطلحات موضوعية: GAUCHER'S disease treatment, LYSOSOMAL storage diseases, GENETIC mutation, THERAPEUTICS, INTRAVENOUS therapy, BIOSYNTHESIS

مصطلحات جغرافية: UNITED States