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1. Full Text Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives
by Boelens, Jaap Jan and van Hasselt, Peter M
Neuropediatrics, ISSN 0174-304X, 10/2016, Volume 47, Issue 5, pp. 285 - 292
gene therapy | indications | Review | neurodevelopment | hematopoietic cell transplantation | Journal Article | Review Article | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Adrenoleukodystrophy - physiopathology | Humans | Mucopolysaccharidosis I - physiopathology | Adrenoleukodystrophy - psychology | Leukodystrophy, Metachromatic - psychology | Metabolism, Inborn Errors - therapy | Neurodevelopmental Disorders - psychology | Leukodystrophy, Globoid Cell - psychology | Leukodystrophy, Globoid Cell - physiopathology | Adrenoleukodystrophy - therapy | Leukodystrophy, Globoid Cell - complications | Mucopolysaccharidosis I - therapy | Adrenoleukodystrophy - complications | Leukodystrophy, Globoid Cell - therapy | Neurodevelopmental Disorders - etiology | Leukodystrophy, Metachromatic - physiopathology | Hematopoietic Stem Cell Transplantation | Leukodystrophy, Metachromatic - therapy | Neurodevelopmental Disorders - physiopathology | Mucopolysaccharidosis I - complications | Leukodystrophy, Metachromatic - complications | Mucopolysaccharidosis I - psychology | Metabolism, Inborn Errors - psychology | Metabolism, Inborn Errors - complications | Metabolism, Inborn Errors - physiopathology
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2. Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?/ Reply
by Letterio S Politi and Ettore Salsano and Alessandra Biffi and Chujun Wu and Dongsheng Fan
Archives of neurology (Chicago), ISSN 2168-6149, 08/2018, Volume 75, Issue 8, p. 1027
Leukodystrophy
Journal Article
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3. Full Text Childhood leukodystrophies: a clinical perspective
by Kohlschütter, Alfried and Eichler, Florian
Expert review of neurotherapeutics, ISSN 1473-7175, 10/2011, Volume 11, Issue 10, pp. 1485 - 1496
metabolic genetic disease | degenerative brain disease | brain white matter | children | MRI | Pharmacology & Pharmacy | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurodegenerative Diseases - pathology | Leukodystrophy, Globoid Cell - diagnosis | Leukodystrophy, Metachromatic - physiopathology | Humans | Leukodystrophy, Globoid Cell - pathology | Neurodegenerative Diseases - diagnosis | Infant | Leukodystrophy, Metachromatic - therapy | Neurodegenerative Diseases - therapy | Leukodystrophy, Globoid Cell - physiopathology | Magnetic Resonance Imaging | Leukodystrophy, Metachromatic - diagnosis | Neurodegenerative Diseases - physiopathology | Nerve Fibers, Myelinated - pathology | Leukodystrophy, Globoid Cell - therapy | Child | Leukodystrophy, Metachromatic - pathology | Infant, Newborn | Care and treatment | Usage | Magnetic resonance imaging | Children | Diagnosis | Research | Health aspects | Leukoencephalopathy | Index Medicus
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4. Full Text Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
by Wasserstein, Melissa P and Andriola, Mary and Arnold, Georgianne and Aron, Alan and Duffner, Patricia and Erbe, Richard W and Escolar, Maria L and Estrella, Lissette and Galvin-Parton, Patricia and Iglesias, Alejandro and Kay, Denise M and Kronn, David F and Kurtzberg, Joanne and Kwon, Jennifer M and Langan, Thomas J and Levy, Paul A and Naidich, Thomas P and Orsini, Joseph J and Pellegrino, Joan E and Provenzale, James M and Wenger, David A and Caggana, Michele and New York State Krabbe Consortium and and the New York State Krabbe Consortium
Genetics in medicine, ISSN 1098-3600, 12/2016, Volume 18, Issue 12, pp. 1235 - 1243
newborn screening | Krabbe disease | Globoid cell leukodystrophy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | New York | Leukodystrophy, Globoid Cell - diagnosis | Humans | Risk Factors | Infant | Neonatal Screening | Mass Screening | Hematopoietic Stem Cell Transplantation - adverse effects | Female | Leukodystrophy, Globoid Cell - genetics | Leukodystrophy, Globoid Cell - mortality | Leukodystrophy, Globoid Cell - therapy | Infant, Newborn | Index Medicus
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5. Full Text History, genetic, and recent advances on Krabbe disease
by Graziano, Adriana Carol Eleonora and Cardile, Venera
Gene, ISSN 0378-1119, 01/2015, Volume 555, Issue 1, pp. 2 - 13
β-Galactocerebrosidase | Sphingolipid | Lysosomal storage disease | Myelin | Globoid cell leukodystrophy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Animals | History, 20th Century | Humans | Leukodystrophy, Globoid Cell - history | History, 19th Century | Leukodystrophy, Globoid Cell - genetics | Leukodystrophy, Globoid Cell - therapy | Leukodystrophy, Globoid Cell - physiopathology | Index Medicus
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6. Full Text Mechanism-based combination treatment dramatically increases therapeutic efficacy in murine globoid cell leukodystrophy
by Hawkins-Salsbury, Jacqueline A and Shea, Lauren and Jiang, Xuntian and Hunter, Daniel A and Miguel Guzman, A and Reddy, Adarsh S and Qin, Elizabeth Y and Li, Yedda and Gray, Steven J and Ory, Daniel S and Sands, Mark S
The Journal of neuroscience, ISSN 0270-6474, 04/2015, Volume 35, Issue 16, pp. 6495 - 6505
Gene therapy | Lysosomal storage disease | Dysmyelination | Krabbe disease | Globoid cell leukodystrophy | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Genetic Therapy | Motor Skills - drug effects | Body Weight - drug effects | Myelin Sheath - drug effects | Male | Body Weight - genetics | Brain - metabolism | Sciatic Nerve - metabolism | Galactosylceramidase - genetics | Bone Marrow Transplantation | Female | Leukodystrophy, Globoid Cell - therapy | Myelin Sheath - physiology | Cytokines - metabolism | Psychosine - metabolism | Leukodystrophy, Globoid Cell - pathology | Combined Modality Therapy | Leukodystrophy, Globoid Cell - drug therapy | Mice, Inbred Strains | Cycloserine - therapeutic use | Brain - drug effects | Animals | Leukodystrophy, Globoid Cell - genetics | Mice | Galactosylceramidase - metabolism | Index Medicus | gene therapy | globoid cell leukodystrophy | dysmyelination | lysosomal storage disease
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7. Full Text Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
by Alessandra Biffi and Eugenio Montini and Laura Lorioli and Martina Cesani and Francesca Fumagalli and Tiziana Plati and Cristina Baldoli and Sabata Martino and Andrea Calabria and Sabrina Canale and Fabrizio Benedicenti and Giuliana Vallanti and Luca Biasco and Simone Leo and Nabil Kabbara and Gianluigi Zanetti and William B. Rizzo and Nalini A. L. Mehta and Maria Pia Cicalese and Miriam Casiraghi and Jaap J. Boelens and Ubaldo Del Carro and David J. Dow and Manfred Schmidt and Andrea Assanelli and Victor Neduva and Clelia Di Serio and Elia Stupka and Jason Gardner and Christof von Kalle and Claudio Bordignon and Fabio Ciceri and Attilio Rovelli and Maria Grazia Roncarolo and Alessandro Aiuti and Maria Sessa and Luigi Naldini
Science (American Association for the Advancement of Science), ISSN 0036-8075, 8/2013, Volume 341, Issue 6148, pp. 864 - 864
RESEARCH ARTICLE SUMMARY | Metachromatic leukodystrophy | Nervous system diseases | Neurodegenerative diseases | Demyelinating diseases | Medical treatment | Gene therapy | Hematopoietic stem cells | Image contrast | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Transduction, Genetic | Follow-Up Studies | Humans | Hematopoietic Stem Cell Transplantation | Leukodystrophy, Metachromatic - therapy | Treatment Outcome | Hematopoietic Stem Cells - metabolism | Virus Integration | Lentivirus | Magnetic Resonance Imaging | Genetic Engineering | Brain - pathology | Genetic Vectors - toxicity | DNA Damage | Leukodystrophy, Metachromatic - pathology | Cerebroside-Sulfatase - genetics | Genetic Therapy - methods | Index Medicus
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8. Full Text Microglia damage precedes major myelin breakdown in X‐linked adrenoleukodystrophy and metachromatic leukodystrophy
by Bergner, Caroline G and Meer, Franziska and Winkler, Anne and Wrzos, Claudia and Türkmen, Mevlude and Valizada, Emil and Fitzner, Dirk and Hametner, Simon and Hartmann, Christian and Pfeifenbring, Sabine and Stoltenburg‐Didinger, Gisela and Brück, Wolfgang and Nessler, Stefan and Stadelmann, Christine
Glia, ISSN 0894-1491, 06/2019, Volume 67, Issue 6, pp. 1196 - 1209
metachromatic leukodystrophy | X‐linked adrenoleukodystrophy | cell death | microglia | demyelination | X-linked adrenoleukodystrophy | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Microglia - metabolism | Myelin Sheath - pathology | Humans | Middle Aged | Adrenoleukodystrophy - pathology | Child, Preschool | Male | Myelin Sheath - metabolism | Adrenoleukodystrophy - metabolism | Leukodystrophy, Metachromatic - genetics | Leukodystrophy, Metachromatic - metabolism | Myelin Sheath - genetics | Adolescent | Microglia - pathology | Adult | Female | Aged | Adrenoleukodystrophy - genetics | Child | Leukodystrophy, Metachromatic - pathology | Cohort Studies | Sphingolipidoses | Transplantation | Cell death | Hematopoietic stem cells | Stem cells | Pathogenesis | Stem cell transplantation | Lipids | Demyelination | Autopsy | Oligodendrocytes | DNA fragmentation | Degeneration | Lesions | Deoxyribonucleic acid--DNA | Phenotypes | Autopsies | Demyelinating diseases | Myelin | Leukodystrophy | Atomic layer epitaxy | Substantia alba | Substrates | Microglia | Hemopoiesis | Diseases | Adrenoleukodystrophy | Morphology | Apoptosis | Index Medicus
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9. Full Text Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy
by Ricca, Alessana and Rufo, Nicole and Ungari, Silvia and Morena, Francesco and Martino, Sabata and Kulik, Wilem and Alberizzi, Valeria and Bolino, Alessana and Bianchi, Francesca and del Carro, Ubaldo and Biffi, Alessana and Gritti, Angela
Human molecular genetics, ISSN 0964-6906, 2015, Volume 24, Issue 12, pp. 3372 - 3389
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Therapy | Central Nervous System - metabolism | Leukodystrophy, Globoid Cell - diagnosis | Humans | Apoptosis - genetics | Neural Stem Cells - cytology | Myelin Sheath - metabolism | Brain - metabolism | Gliosis - pathology | Stem Cell Transplantation | Galactosylceramidase - genetics | Leukodystrophy, Globoid Cell - metabolism | Bone Marrow Transplantation | Cell Differentiation | Leukodystrophy, Globoid Cell - mortality | Leukodystrophy, Globoid Cell - therapy | Disease Models, Animal | Gliosis - genetics | Gliosis - metabolism | Peripheral Nervous System - physiopathology | Axons - metabolism | Graft Survival | Mice, Transgenic | Cell- and Tissue-Based Therapy | Mice, Knockout | Animals | Axons - pathology | Peripheral Nervous System - metabolism | Leukodystrophy, Globoid Cell - genetics | Mice | Central Nervous System - physiopathology | Enzyme Activation | Neural Stem Cells - metabolism | Galactosylceramidase - metabolism | Index Medicus
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