المؤلفون: Hult, Malin¹, Darin, Niklas², Döbeln, Ulrika¹, Månsson, Jan‐Eric³

المصدر: Acta Paediatrica. Dec2014, Vol. 103 Issue 12, p1258-1263. 6p.

مصطلحات موضوعية: *EPIDEMIOLOGY, *LYSOSOMAL storage diseases, *GLOBOID cell leukodystrophy, *ALGORITHMS

مصطلحات جغرافية: SWEDEN

المؤلفون: Tylki- Szymanska, A¹, Jurecka, A^1,2, Zuber, Z³, Rozdzynska, A⁴, Marucha, J¹, Czartoryska, B⁵

المصدر: Acta Paediatrica. Jan2012, Vol. 101 Issue 1, pe42-e47. 6p.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS II, *LYSOSOMAL storage diseases, *INTRAVENOUS therapy, *PSYCHOLOGICAL tests for children, *CRASH test dummies, *DIAGNOSIS

المؤلفون: Parini, Rossella, Broomfield, Alexander, Cleary, Maureen A., De Meirleir, Linda, Di Rocco, Maja, Fathalla, Waseem M., Guffon, Nathalie, Lampe, Christina, Lund, Allan M., Scarpa, Maurizio, Tylki‐Szymańska, Anna, Zeman, Jiří, Tylki-Szymańska, Anna

المصدر: Acta Paediatrica; Dec2018, Vol. 107 Issue 12, p2059-2065, 7p

مصطلحات موضوعية: RARE diseases, MUCOPOLYSACCHARIDOSIS, LYSOSOMAL storage diseases, TYPE I interferons, GENETIC disorders

المؤلفون: Finn, Chelsea T.¹, Vedolin, Leonardo², Schwartz, Ida V.², Giugliani, Roberto², Haws, Charlotte A.¹, Prescot, Andrew P.¹, Renshaw, Perry F.¹ perry@mclean.harvard.edu

المصدر: Acta Paediatrica. 04/02/2008, p61-68. 8p. 2 Charts, 1 Graph.

مصطلحات موضوعية: *MAGNETIC resonance imaging, *LYSOSOMAL storage diseases, *ENZYMES, *GLYCOSAMINOGLYCANS, *NEUROSCIENCES, *MUCOPOLYSACCHARIDES, *PATIENTS, *THERAPEUTICS, *MEDICAL research

المؤلفون: Platt, Frances M.¹ frances.platt@pharm.ox.ac.uk, Jeyakumar, Mylvaganam¹

المصدر: Acta Paediatrica. 04/02/2008, p88-93. 6p. 1 Chart.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *PATHOLOGY, *CENTRAL nervous system, *GAUCHER'S disease, *GLYCOSPHINGOLIPIDS, *BIOSYNTHESIS, *METABOLISM, *BIOCHEMICAL engineering, *MEDICAL research

المؤلفون: Aerts, Johannes M.^1,2 j.m.aerts@amc.uva.nl, van Breemen, Marielle J.², Bussink, Anton P.², Ghauharali, Karen², Sprenger, Richard^1,2, Boot, Rolf G.², Groener, Johanna E.², Hollak, Carla E.³, Maas, Mario⁴, Smit, Suzanne⁵, Hoefsloot, Huub C.⁵, Smilde, Age K.⁴, Vissers, Johannes P. C.⁶, de Jong, Sheryas¹, Speijer, Dave^1,2, de Koster, Chris G.^1,2

المصدر: Acta Paediatrica. 04/02/2008, p7-14. 8p. 1 Diagram.

مصطلحات موضوعية: *BIOMARKERS, *LYSOSOMAL storage diseases, *GAUCHER'S disease, *METABOLITES, *MOLECULAR biology, *PATIENT monitoring, *DISEASE management, *PROTEOMICS, *MEDICAL research

المصدر: Acta Paediatrica. 04/02/2008, p97-105. 9p. 1 Chart.

مصطلحات موضوعية: *MUCOPOLYSACCHARIDOSIS, *LYSOSOMAL storage diseases, *SULFATES, *NEURODEGENERATION, *SOMATIC cells, *BIOCHEMICAL engineering, *GENETICS, *DISEASES, *MEDICAL research

المؤلفون: Martin, Holly R.¹, Poe, Michele D.², Reinhartsen, Debra, Pretzel, Rebecca E.¹, Roush, Jackson³, Rosenberg, Angela¹, Dusing, Stacey C.¹, Escolar, Maria L.¹ maria.escolar@cdl.unc.edu

المصدر: Acta Paediatrica. 04/02/2008, p69-75. 7p. 3 Charts, 1 Graph.

مصطلحات موضوعية: *NEURODEVELOPMENTAL treatment, *LYSOSOMAL storage diseases, *GENETIC mutation, *STEM cell transplantation, *NEURODEGENERATION, *BONE marrow cells, *THERAPEUTICS, *GENERAL practitioners, *MEDICAL research

المؤلفون: Matern, Dietrich¹ matern@mayo.edu

المصدر: Acta Paediatrica. 04/02/2008, p33-37. 5p. 1 Diagram, 1 Chart.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *NEONATAL diseases, *NEONATAL death, *EARLY death, *BONE marrow transplantation, *PUBLIC health, *MASS spectrometry, *DEMOGRAPHIC surveys, *MEDICAL research

المؤلفون: Caciotti, A.¹, Donati, M. A.¹, Pasquini, E.¹, Carraresi, L.¹, D'Azzo, A.², Dionisi Vici, C.³, Di Rocco, M.⁴, Parini, R.⁵, Antuzzi, D.⁶, Zammarchi, E.¹, Guerrini, R.¹, Morrone, A.¹

المصدر: Acta Paediatrica. 04/02/2008, p119-122. 4p. 1 Chart.

مصطلحات موضوعية: *LYSOSOMAL storage diseases, *NEUROLOGICAL disorders, *GANGLIOSIDOSES, *PHENOTYPES, *GENETIC mutation, *FIBROBLASTS, *PEDIATRICS, *PATHOLOGY, *GENETIC research