المؤلفون: Krägeloh-Mann, Ingeborg¹ lngeborg.Kraegeloh-Mann@med.uni-tuebingen.de, Groeschel, Samuel²

المصدر: Lancet. 7/30/2016, Vol. 388 Issue 10043, p440-442. 3p.

مصطلحات موضوعية: LYSOSOMAL storage diseases, THERAPEUTICS, STEM cell treatment, GENE therapy, GENE replacement

المؤلفون: Mechtler, Thomas P.¹, Stray, Susanne², Metz, Thomas F.¹, De Jesós, Victor R.³, Greber-Platzer, Susanne¹, Pollak, Arnold¹, Herkner, Kurt R.¹, Streubel, Berthold² berthold.streubel@meduniwien.ac.at, Kasper, David C.¹

المصدر: Lancet. 1/28/2012, Vol. 379 Issue 9813, p335-341. 7p.

مصطلحات موضوعية: *QUANTITATIVE research, NEWBORN screening, LYSOSOMAL storage diseases, GENETIC mutation, BLOOD testing, GAUCHER'S disease, GLYCOGEN storage disease type II, DIAGNOSIS

مصطلحات جغرافية: AUSTRIA

المؤلفون: Zarate, Yuri A.¹, Hopkin, Robert J.¹ rob.hopkin@cchmc.org

المصدر: Lancet. 10/18/2008, Vol. 372 Issue 9647, p1427-1435. 9p. 1 Color Photograph.

مصطلحات موضوعية: LYSOSOMAL storage diseases, GLYCOSPHINGOLIPIDS, GENETIC disorders, KIDNEY diseases, PROTEINURIA, GASTROINTESTINAL motility disorders

المؤلفون: Chii-Shiarng Chen, Patterson, Marc C.

المصدر: Lancet. 9/11/1999, Vol. 354 Issue 9182, p901-905. 5p. 10 Color Photographs, 1 Diagram, 1 Chart.

مصطلحات موضوعية: FLUORIMETRY, LYSOSOMAL storage diseases, DIAGNOSIS

المؤلفون: Peters, F P J, Vermeulen, A, Kho, T L, Peters, F P¹ (AUTHOR)

المصدر: Lancet. 1/13/2001, Vol. 357 Issue 9250, p138-140. 3p. 2 Color Photographs.

مصطلحات موضوعية: LYSOSOMAL storage diseases, DIAGNOSIS, TERMINALLY ill, INBORN errors of metabolism

المؤلفون: Fletcher, Janice^1,2 janice.fletcher@adelaide.edu.au, Wilcken, Bridget³

المصدر: Lancet. 1/28/2012, Vol. 379 Issue 9813, p294-295. 2p.

مصطلحات موضوعية: NEWBORN screening, LYSOSOMAL storage diseases, BONE marrow transplantation, GLYCOGEN storage disease type II, ETHICS, DIAGNOSIS

People: MECHTLER, Thomas

المؤلفون: Knebelmann, Bertrand¹, Kurschat, Christine², Thadhani, Ravi³ thadhani.r@mgh.harvard.edu

المصدر: Lancet. 12/12/2009, Vol. 374 Issue 9706, p1950-1951. 2p. 1 Black and White Photograph.

مصطلحات موضوعية: THERAPEUTICS, LYSOSOMAL storage diseases, KIDNEY diseases, RANDOMIZED controlled trials, THERAPEUTIC use of immunoglobulins, THERAPEUTIC use of enzymes, DISEASE complications

المؤلفون: Winchester, Bryan

المصدر: Lancet. 9/11/1999, Vol. 354 Issue 9182, p879-880. 2p.

مصطلحات موضوعية: SPHINGOLIPIDOSES, LYSOSOMAL storage diseases, DIAGNOSIS

المؤلفون: Autti, T, Santavuori, P, Raininko, R, Renlund, M, Rapola, J, Saarinen-Pihkala, U

المصدر: Lancet. 5/10/1997, Vol. 349 Issue 9062, p1366. 2p. 3 Graphs.

مصطلحات موضوعية: LYSOSOMAL storage diseases

المؤلفون: Walkley, S.U., Dobrenis, K.

المصدر: Lancet. 6/3/1995, Vol. 345 Issue 8962, p1382-1383. 2p.

مصطلحات موضوعية: BONE marrow transplantation, LYSOSOMAL storage diseases