المؤلفون: Edmiston, Rachel^Aff13, Wilkinson, Stuart^Aff14, Jones, Simon^Aff15, Tylee, Karen^Aff15, Broomfield, Alexander^Aff15, Bruce, Iain A.^{Aff13, Aff16}

المساهمون: Baumgartner, Matthias, Series Editor^{Aff1, Aff8}, Patterson, Marc, Series Editor^{Aff2, Aff9}, Rahman, Shamima, Series Editor^{Aff3, Aff10}, Peters, Verena, Series Editor^{Aff4, Aff12}, Morava, Eva, Editor-in-Chief^{Aff5, Aff7}, Zschocke, Johannes, Series Editor^{Aff6, Aff11}

المصدر: JIMD Reports, Volume 45. 45:1-8

المؤلفون: Ceroni, José Ricardo Magliocco^Aff1, Spolador, Gustavo Marquezani, Bermeo, Diana Salazar, Honjo, Rachel Sayuri, de Oliveira, Luiz Antonio Nunes, Bertola, Débora Romeo^{Aff1, Aff3}, Kim, Chong Ae

المصدر: Skeletal Radiology: Journal of the International Skeletal Society A Journal of Radiology, Pathology and Orthopedics. 48(8):1201-1207

المؤلفون: Lund, Troy C, Cathey, Sara S, Miller, Weston P, Eapen, Mary, Andreansky, Martin, Dvorak, Christopher C, Davis, Jeffrey H, Dalal, Jignesh D, Devine, Steven M, Eames, Gretchen M, Ferguson, William S, Giller, Roger H, He, Wensheng, Kurtzberg, Joanne, Krance, Robert, Katsanis, Emmanuel, Lewis, Victor A, Sahdev, Indira, Orchard, Paul J

المصدر: Transplantation and Cellular Therapy. 20(11)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Stem Cell Research - Nonembryonic - Non-Human, Stem Cell Research, Stem Cell Research - Nonembryonic - Human, Pediatric, Regenerative Medicine, Transplantation, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Good Health and Well Being, Child, Preschool, Data Collection, Hematopoietic Stem Cell Transplantation, Humans, Infant, Mucolipidoses, Surveys and Questionnaires, Transplantation Conditioning, Treatment Outcome, I-cell disease, Mucolipidosis type II, Hematopoietic stem cell transplant, Lysosomal storage disease, Clinical Sciences, Immunology, Cardiovascular medicine and haematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2tf4p25f

المؤلفون: Luise Sophie Ammer, Sandra Pohl, Sandra Rafaela Breyer, Charlotte Aries, Jonas Denecke, Anna Perez, Martin Petzoldt, Johanna Schrum, Ingo Müller, Nicole Maria Muschol

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100704- (2021)

مصطلحات موضوعية: Mucolipidosis type II, I-cell disease, Lysosomal storage disorder, Hematopoietic stem cell transplantation, Bone marrow cell transplantation, Treatment, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920301506; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/ce287ca7fa4049499872f5be59d54ffc

المؤلفون: Ritma Boruah, Ahmad Ardeshir Monavari, Tracey Conlon, Nuala Murphy, Andreea Stroiescu, Stephanie Ryan, Joanne Hughes, Ina Knerr, Ciara McDonnell, Ellen Crushell

المصدر: Journal of Clinical Medicine, Vol 11, Iss 5, p 1366 (2022)

مصطلحات موضوعية: mucolipidosis type II, ML II, I-cell disease, hyperparathyroidism, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/11/5/1366; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/f52b2e8e295a4d6887ee12428e609eb0

المؤلفون: Shaukat A. Khan, Saori C. Tomatsu

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 18, p 6812 (2020)

مصطلحات موضوعية: I-cell disease, inclusion body, lysosome enzyme transport, lysosomal storage disorders, mannose 6-phosphate, glycosaminoglycans, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/21/18/6812; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/4a1ae4ff2b28443ebbfb1271056b0314

المؤلفون: Nina V. Fedorova, Natalia V. Zhurkova, Nato D. Vashakmadze, Marina A. Babaykina, Grigory V. Revunenkov, Kirill V. Savostyanov, Olga B. Gordeeva, Leyla S. Namazova-Baranova

المصدر: Pediatričeskaâ Farmakologiâ, Vol 17, Iss 5, Pp 459-466 (2020)

مصطلحات موضوعية: neonatal hyperparathyroidism, medicine.medical_specialty, Aortography, medicine.diagnostic_test, business.industry, Mucolipidosis, abdominal aortic hypoplasia, type ii mucolipidosis, RM1-950, medicine.disease, Muscle hypertrophy, gene gnptab, lysosomal storage disease, i-cell disease, Heart failure, Internal medicine, medicine, Lysosomal storage disease, Macroglossia, Cardiology, I-cell disease, Therapeutics. Pharmacology, medicine.symptom, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec368b7b3aedd25eca09bafbd577c48
https://www.pedpharma.ru/jour/article/view/1907

المؤلفون: Luise Sophie Ammer, Esmeralda Oussoren, Nicole Maria Muschol, Sandra Pohl, Maria Estela Rubio-Gozalbo, René Santer, Ralf Stuecker, Eik Vettorazzi, Sandra Rafaela Breyer

المصدر: Journal of Clinical Medicine, Vol 9, Iss 3, p 728 (2020)

مصطلحات موضوعية: mucolipidosis type ii, mlii, ml intermediate, i-cell disease, hip, hip dysplasia, hip dislocation, cloaking, femoral bowing, ultrasound, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/9/3/728; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/10223d64e352427393b343be6e88d853

المؤلفون: Lai, Lillian M., Lachman, Ralph S.

المصدر: Pediatric Radiology. November 2016 46(12):1713-1720

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