MBOAT7 encephalopathy: Characterizing the neurology and epileptology

Συγγραφείς: De la Rosa, Sebastian Ortiz, Rizzo, Valentina, Jauss, Robin‐Tobias, Bartolomaeus, Tobias, Escolar, Maria, Bernard, Geneviève, Gavrilova, Ralitza, Ahrens‐Nicklas, Rebecca, Lemire, Gabrielle, Boycott, Kym M, Mercimek‐Andrews, Saadet, Prontera, Paolo, Costa, Cinzia, Rakic, Bojana, Boerkoel, Cornelius F, Huynh, Stephanie, Huh, Linda, Sherr, Elliott, Argilli, Emanuela, Ortigoza‐Escobar, Juan Darío, Casas‐Alba, Didac, Nunes, Tania, Koolen, David A, Platzer, Konrad, Khinchi, Marianne S, Gardella, Elena, Fenger, Christina D, Møller, Rikke S, Bayat, Allan

Πηγή: Epilepsia. 66(7)

Θεματικοί όροι: 32 Biomedical and Clinical Sciences (for-2020), 3209 Neurosciences (for-2020), 3202 Clinical Sciences (for-2020), Neurosciences (rcdc), Brain Disorders (rcdc), Clinical Research (rcdc), Neurodegenerative (rcdc), Mental Health (rcdc), Epilepsy (rcdc), Pediatric (rcdc), Intellectual and Developmental Disabilities (IDD) (rcdc), 2.1 Biological and endogenous factors (hrcs-rac), Neurological (hrcs-hc), Humans (mesh), Male (mesh), Female (mesh), Child, Preschool (mesh), Child (mesh), Electroencephalography (mesh), Epilepsy (mesh), Infant (mesh), Magnetic Resonance Imaging (mesh), Intellectual Disability (mesh), Anticonvulsants (mesh), Developmental Disabilities (mesh), Phenotype (mesh), Cohort Studies (mesh), Brain (mesh), electroencephalography, epilepsy, genetics, lysophosphatidylinositol acyltransferase 1, neurodevelopmental disorder, Brain (mesh), Humans (mesh), Epilepsy (mesh), Anticonvulsants (mesh), Magnetic Resonance Imaging (mesh), Electroencephalography (mesh), Cohort Studies (mesh), Developmental Disabilities (mesh), Phenotype (mesh), Child (mesh), Child, Preschool (mesh), Infant (mesh), Female (mesh), Male (mesh), Intellectual Disability (mesh), electroencephalography, epilepsy, genetics, lysophosphatidylinositol acyltransferase 1, neurodevelopmental disorder, Humans (mesh), Male (mesh), Female (mesh), Child, Preschool (mesh), Child (mesh), Electroencephalography (mesh), Epilepsy (mesh), Infant (mesh), Magnetic Resonance Imaging (mesh), Intellectual Disability (mesh), Anticonvulsants (mesh), Developmental Disabilities (mesh), Phenotype (mesh), Cohort Studies (mesh), Brain (mesh), 1103 Clinical Sciences (for), 1109 Neurosciences (for), Neurology & Neurosurgery (science-metrix), 3202 Clinical sciences (for-2020), 3209 Neurosciences (for-2020)

Σύνδεσμος πρόσβασης: https://escholarship.org/uc/item/5254q22n

Risk of Seizures and Epilepsy in the Leukodystrophies

Συγγραφείς: Hackett, Ashley N. ^{a, b}, Yan, Helena ^c, Liu, Katie ^a, Corre, Camille ^d, Gao, Kerry ^c, Grzyb, Chloe ^e, Goodman, Jordan ^f, Kelly, Daniel ^g, Ingemansson, Cassandra R. ^h, Ghabash, Gabrielle ⁱ, DiBenardo, Kerry ^a, Raymond, Gerald V. ^f, Benko, William ^h, Thompson-Stone, Robert ^d, Fatemi, Ali ^f, Eichler, Florian S. ^g, Keller, Stephanie ^a, Bonkowsky, Joshua L. ^{i, j}, Escolar, Maria ^{e, 1}, Mallack, Eric J. ^{c, f, ∗, 1}

Πηγή: In Pediatric Neurology January 2026 174:20-28

Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States

Συγγραφείς: Adang, Laura A., Author, Bonkowsky, Joshua L., Author, Boelens, Jaap Jan, Author, Mallack, Eric, Author, Ahrens-Nicklas, Rebecca, Author, Bernat, John A., Author, Bley, Annette, Author, Burton, Barbara, Author, Darling, Alejandra, Author, Eichler, Florian, Author, Eklund, Erik, Author, Emrick, Lisa, Author, Escolar, Maria, Author, Fatemi, Ali, Author, Fraser, Jamie L., Author, Gaviglio, Amy, Author, Keller, Stephanie, Author, Patterson, Marc C., Author, Orchard, Paul, Author, Orthmann-Murphy, Jennifer, Author, Santoro, Jonathan D., Author, Schöls, Ludger, Author, Sevin, Caroline, Author, Srivastava, Isha N., Author, Rajan, Deepa, Author, Rubin, Jennifer P., Author, Van Haren, Keith, Author, Wasserstein, Melissa, Author, Zerem, Ayelet, Author, Fumagalli, Francesca, Author, Laugwitz, Lucia, Author, Vanderver, Adeline, Author, Lund University, Faculty of Medicine, Department of Clinical Sciences, Lund, Section V, Paediatrics (Lund), Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Lund, Sektion V, Pediatrik, Lund, Originator

Συνεισφορές: Adang, Laura A., Author, Bonkowsky, Joshua L., Author, Boelens, Jaap Jan, Author, Mallack, Eric, Author, Ahrens-Nicklas, Rebecca, Author, Bernat, John A., Author, Bley, Annette, Author, Burton, Barbara, Author, Darling, Alejandra, Author, Eichler, Florian, Author, Eklund, Erik, Author, Emrick, Lisa, Author, Escolar, Maria, Author, Fatemi, Ali, Author, Fraser, Jamie L., Author, Gaviglio, Amy, Author, Keller, Stephanie, Author, Patterson, Marc C., Author, Orchard, Paul, Author, Orthmann-Murphy, Jennifer, Author, Santoro, Jonathan D., Author, Schöls, Ludger, Author, Sevin, Caroline, Author, Srivastava, Isha N., Author, Rajan, Deepa, Author, Rubin, Jennifer P., Author, Van Haren, Keith, Author, Wasserstein, Melissa, Author, Zerem, Ayelet, Author, Fumagalli, Francesca, Author, Laugwitz, Lucia, Author, Vanderver, Adeline, Author, Lund University, Faculty of Medicine, Department of Clinical Sciences, Lund, Section V, Paediatrics (Lund), Lunds universitet, Medicinska fakulteten, Institutionen för kliniska vetenskaper, Lund, Sektion V, Pediatrik, Lund, Originator

Πηγή: Cytotherapy. 26(7):739-748

Θεματικοί όροι: Medical and Health Sciences, Clinical Medicine, Neurology, Medicin och hälsovetenskap, Klinisk medicin, Neurologi

Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry

Συγγραφείς: Hong, Xinying^aff1, Kumar, Arun Babu^aff1, Daiker, Jessica^aff1, Yi, Fan^aff1, Sadilek, Martin^aff1, De Mattia, Fabiola^aff2, Fumagalli, Francesca^{aff2, aff3}, Calbi, Valeria^{aff2, aff3}, Damiano, Roberta^aff4, Della Bona, Maria^aff4, la Marca, Giancarlo^{aff4, aff5}, Vanderver, Adeline L.^{aff6, aff7}, Waldman, Amy T.^{aff6, aff7}, Adang, Laura^{aff6, aff7}, Sherbini, Omar^aff6, Woidill, Sarah^aff6, Suhr, Teryn^aff8, Kurtzberg, Joanne^aff9, Beltran-Quintero, Maria L.^aff10, Escolar, Maria^aff10, Aiuti, Alessandro^aff2, Finglas, Alan^aff12, Olsen, Amber^aff13, Gelb, Michael H.^{aff1, aff11}

Πηγή: Analytical Chemistry. 92(9):6341-6348

Διαθεσιμότητα: https://pubs.acs.org/doi/10.1021/acs.analchem.9b05274

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Συγγραφείς: Adang, Laura Ann ^a, Groeschel, Samuel ^b, Grzyb, Chloe ^c, D'Aiello, Russell ^a, Gavazzi, Francesco ^a, Sherbini, Omar ^a, Bronner, Nowa ^{a, n, 1}, Patel, Akshilkumar ^{a, o, 1}, Vincent, Ariel ^a, Sevagamoorthy, Anjana ^a, Mutua, Sylvia ^a, Muirhead, Kayla ^a, Schmidt, Johanna ^a, Pizzino, Amy ^a, Yu, Emily ^a, Jin, Danielle ^d, Eichler, Florian ^e, Fraser, Jamie L. ^f, Emrick, Lisa ^g, Van Haren, Keith ^h, Boulanger, Jean-Martin ⁱ, Ruzhnikov, Maura ^h, Sylvain, Michel ^j, Nguyen, Cam-Tu Émilie ^k, Potic, Ana ^l, Keller, Stephanie ^m, Fatemi, Ali ^p, Uebergang, Eloise ^w, Poe, Michele ^c, Yazdani, Pouneh Amir ^q, Bernat, John ^r, Lindstrom, Kristen ^{s, t}, Bonkowsky, Joshua L. ^u, Bernard, Genevieve ^v, Stutterd, Chloe A. ^w, Orchard, Paul ^d, Gupta, Ashish O. ^d, Ljungberg, Merete ^x, Groenborg, Sabine ^x, Zambon, Alberto ^y, Locatelli, Sara ^z, Fumagalli, Francesca ^aa, Elguen, Saskia ^b, Kehrer, Christiane ^b, Krägeloh-Mann, Ingeborg ^b, Shults, Justine ^ab, Vanderver, Adeline ^a, Escolar, Maria L. ^{c, ⁎}

Πηγή: In Molecular Genetics and Metabolism August 2024 142(4)

Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy

Συγγραφείς: Bradbury, Allison M. ^{1, 2, 3, ∗}, Bagel, Jessica ¹, Swain, Gary ¹, Miyadera, Keiko ¹, Pesayco, Jill P. ⁴, Assenmacher, Charles-Antoine ⁵, Brisson, Becky ¹, Hendricks, Ian ¹, Wang, Xiao H. ⁶, Herbst, Zachary ⁷, Pyne, Nettie ², Odonnell, Patricia ¹, Shelton, G. Diane ⁴, Gelb, Michael ⁷, Hackett, Neil ⁸, Szabolcs, Paul ⁴, Vite, Charles H. ¹, Escolar, Maria ^{6, 9}

Πηγή: In Molecular Therapy 3 January 2024 32(1):44-58

Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation

Συγγραφείς: Corti, Manuela ^{1, 15}, Byrne, Barry J. ^{1, 15, ∗}, Gessler, Dominic J. ^{2, 3}, Thompson, Grace ⁴, Norman, Samantha ¹, Lammers, Jenna ¹, Coleman, Kirsten E. ¹, Liberati, Cristina ¹, Elder, Melissa E. ^{1, 5}, Escolar, Maria L. ⁶, Tuna, Ibrahim S. ⁷, Mesaros, Clementina ^{8, 9}, Kleiner, Gary I. ¹⁰, Barbouth, Deborah S. ¹¹, Gray-Edwards, Heather L. ^{2, 12}, Clement, Nathalie ¹, Cleaver, Brian D. ¹, Gao, Guangping ^{2, 13, 14}

Πηγή: In Molecular Therapy - Methods & Clinical Development 14 September 2023 30:303-314

Parametric regression scheme for distributions: Analysis of DTI fiber tract diffusion changes in early brain development

Συγγραφείς: Sharma, Anuja, Fletcher, P. Thomas, Gilmore, John H., Escolar, Maria L., Gupta, Aditya, Styner, Martin, Gerig, Guido

Πηγή: 2014 IEEE 11th International Symposium on Biomedical Imaging (ISBI) Biomedical Imaging (ISBI), 2014 IEEE 11th International Symposium on. :559-562 Apr, 2014

Relation: 2014 IEEE 11th International Symposium on Biomedical Imaging (ISBI 2014)

Spatiotemporal modeling of distribution-valued data applied to DTI tract evolution in infant neurodevelopment

Συγγραφείς: Sharma, Anuja, Fletcher, P. Thomas, Gilmore, John H., Escolar, Maria L., Vardhan, Avantika, Gupta, Aditya, Styner, Martin, Gerig, Guido

Πηγή: 2013 IEEE 10th International Symposium on Biomedical Imaging Biomedical Imaging (ISBI), 2013 IEEE 10th International Symposium on. :684-687 Apr, 2013

Relation: 2013 IEEE 10th International Symposium on Biomedical Imaging (ISBI 2013)

Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III

Συγγραφείς: Escolar, Maria, Bradshaw, Jessica, Byers, Valerie Tharp, Giugliani, Roberto, Golightly, Lynn, Lourenço, Charles Marques, McDonald, Kimberly, Muschol, Nicole, Newsom-Davis, Imogen, O’Neill, Cara, Peay, Holly L., Siedman, Jennifer, Solano, Martha L., Wirt, Tessa, Wood, Tim, Zwaigenbaum, Lonnie

Πηγή: Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200002, Published: 15 JUN 2020. June 2020

Θεματικοί όροι: Mucopolysaccharidosis III, Sanfilippo syndrome, signs, symptoms, diagnostic algorithm

Περιγραφή αρχείου: text/html

Σύνδεσμος πρόσβασης: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401&lng=en&tlng=en

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease

Συγγραφείς: Thompson-Stone, Robert, Ream, Margie A, Gelb, Michael, Matern, Dietrich, Orsini, Joseph J, Levy, Paul A, Rubin, Jennifer P, Wenger, David A, Burton, Barbara K, Escolar, Maria L, Kurtzberg, Joanne

Πηγή: Molecular Genetics and Metabolism. 134:53-59

Θεματικοί όροι: 0301 basic medicine, Consensus, Genotype, Infant, Newborn, Infant, Leukodystrophy, Globoid Cell, Newborn, Late Onset Disorders, Leukodystrophy, Globoid Cell, 3. Good health, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Risk Factors, Practice Guidelines as Topic, Humans, Dried Blood Spot Testing, Follow-Up Studies

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://pubmed.ncbi.nlm.nih.gov/33832819

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration

Συγγραφείς: Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Comella, Cynthia, Correa‐vela, Marta, Escolar, Maria, Fraser, Jamie, Gonzalez, Victoria, Hermanowicz, Neal, Jech, Robert, Jinnah, Hyder, Kmiec, Tomasz, Lang, Anthony, Martí, Maria, Mercimek-Andrews, Saadet, Monduy, Migvis, Nimmo, Graeme A.M., Perez-Dueñas, Belen, Pfeiffer, Helle Cecilie Viekilde, Planellas, Lluis, Roze, Emmanuel, Thakur, Nivedita, Tochen, Laura, Vanegas-Arroyave, Nora, Zorzi, Giovanna, Burns, Colleen, Greblikas, Feriandas

Συνεισφορές: Institut Català de la Salut, [Klopstock T] Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany. German Center for Neurodegenerative Diseases (DZNE), Munich, Munich, Germany. Munich Cluster for Systems Neurology (SyNergy), Munich, Munich, Germany. [Videnovic A] Department of Neurology, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA. [Bischoff AT] Friedrich Baur Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany. [Bonnet C] Department of Neurology, Sorbonne University, AP-HP Salpêtrière Hospital, Paris, France. [Cif L] Department of Neurosurgery, CHRU de Montpellier, Gui de Chauliac Hospital, Montpellier, France. [Comella C] Department of Neurosurgery and Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA. [Correa-Vela M, Perez-Dueñas B] Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Sorbonne Université, Gestionnaire HAL 2

Πηγή: Mov Disord
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Movement disorders 36(6), 1342-1352 (2020). doi:10.1002/mds.28392

Θεματικοί όροι: 0301 basic medicine, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, Neurologia pediàtrica, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades de los ganglios basales::neurodegeneración asociada a pantotenato cinasa, Regular Issue Articles, Pantothenic Acid, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, pantothenate kinase-associated neurodegeneration, fosmetpantotenate, Vitamines B, Activities of Daily Living, Humans, Pantothenate Kinase-Associated Neurodegeneration: drug therapy, Pantothenate Kinase-Associated Neurodegeneration, pantothenate kinase–associated neurodegeneration, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Other subheadings::Other subheadings::Other subheadings::/drug therapy, treatment, Pantothenic Acid: analogs & derivatives, Pantothenate Kinase-Associated Neurodegeneration: genetics, 3. Good health, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Basal Ganglia Diseases::Pantothenate Kinase-Associated Neurodegeneration, randomized controlled trial

Περιγραφή αρχείου: application/pdf

Σύνδεσμος πρόσβασης: https://movementdisorders.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/mds.28392
https://pubmed.ncbi.nlm.nih.gov/33200489
https://hdl.handle.net/11351/7782
https://pub.dzne.de/record/154280
https://hal.sorbonne-universite.fr/hal-04514856v1/document
https://hal.sorbonne-universite.fr/hal-04514856v1
https://doi.org/10.1002/mds.28392
http://hdl.handle.net/11351/7782
https://hdl.handle.net/11351/7782
https://epub.ub.uni-muenchen.de/84959/

Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease

Συγγραφείς: Yoon, Isabel C., Bascou, Nicholas A., Poe, Michele D., Szabolcs, Paul, Escolar, Maria L. ^*

Πηγή: In Blood 1 April 2021 137(13):1719-1730

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Συγγραφείς: Hong, Xinying ¹, Daiker, Jessica ¹, Sadilek, Martin ¹, Ruiz-Schultz, Nicole ², Kumar, Arun Babu ¹, Norcross, Stevie ², Dansithong, Warunee ², Suhr, Teryn ³, Escolar, Maria L. ⁴, Ronald Scott, C. ⁵, Rohrwasser, Andreas ², Gelb, Michael H. ^{1, 6, *}

Πηγή: In Genetics in Medicine March 2021 23(3):555-561

Infantile Krabbe disease (0–12 months), progression, and recommended endpoints for clinical trials

Συγγραφείς: Greco, Melissa R., Lopez, Mabel A., Beltran‐Quintero, Maria L., Tuc Bengur, Ecenur, Poe, Michele D., Escolar, Maria L.

Πηγή: Annals of Clinical and Translational Neurology ; volume 11, issue 12, page 3064-3080 ; ISSN 2328-9503 2328-9503

Διαθεσιμότητα: https://doi.org/10.1002/acn3.52114
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.52114

O30: REKLAIM: A first in human phase Ib clinical trial of FBX-101 (AAVrh10.GALC) intravenously administered after UCBT for infantile Krabbe disease

Συγγραφείς: Escolar, Maria, Lugt, Mark Vander, Wang, Raymond, Ruiz, Juan, Poe, Michele, Szabolcs, Paul

Πηγή: Genetics in Medicine Open ; volume 2, page 100875 ; ISSN 2949-7744

Διαθεσιμότητα: https://doi.org/10.1016/j.gimo.2024.100875
https://api.elsevier.com/content/article/PII:S2949774424000219?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424000219?httpAccept=text/plain

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

Συγγραφείς: Klopstock, Thomas^Aff1, Mercimek-Andrews, Saadet^Aff2, Jurecka, Agnieszka^{Aff3, IDs13023023028691_cor3}, Wood, Patricia^Aff4, Cwyl, Maciej^Aff5, Klucken, Angelika^Aff6, López, Antonio^Aff7, Scalise, Roberta^Aff8, Valle, Andrea^Aff9, Mollet, Fatemeh^Aff10, Perez-Duenas, Belen^Aff11, Skowronska, Marta^Aff12, Chroscinska-Krawczyk, Magdalena^Aff13, Escolar, Maria Luisa^Aff14, Wade, Anna^Aff3, Rintell, David^Aff3

Πηγή: Orphanet Journal of Rare Diseases. 18(1)

Evolving therapies in neuronopathic LSDs: opportunities and challenges

Συγγραφείς: Rajan, Deepa S^Aff1, Escolar, Maria L^{Aff1, IDs11011022009390_cor2}

Πηγή: Metabolic Brain Disease. 37(7):2245-2256

“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant

Συγγραφείς: Nicita, Francesco^{Aff1, IDs4143102201111z_cor1}, Stregapede, Fabrizia^Aff1, Deodato, Federica^Aff2, Pizzi, Simone^Aff3, Martinelli, Simone^Aff4, Pagliara, Daria^Aff5, Aiello, Chiara^Aff1, Cumbo, Francesca^Aff1, Piemonte, Fiorella^Aff1, D’Amico, Jessica^Aff1, Pro, Stefano^Aff6, Longo, Daniela^Aff7, Genovese, Silvia^Aff8, Tartaglia, Marco^Aff3, Escolar, Maria L.^Aff9, Bertini, Enrico^Aff1, Travaglini, Lorena^{Aff1, IDs4143102201111z_cor17}

Πηγή: European Journal of Human Genetics. 30(8):984-988

β-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice

Συγγραφείς: Coltrini, Daniela, Chandran, Adwaid Manu Krishna, Belleri, Mirella, Poliani, Pietro L, Cominelli, Manuela, Pagani, Francesca, Capra, Miriam, Calza, Stefano, Prioni, Simona, Mauri, Laura, Prinetti, Alessandro, Kofler, Julia K, Escolar, Maria L, Presta, Marco

Συνεισφορές: Coltrini, Daniela, Chandran, Adwaid Manu Krishna, Belleri, Mirella, Poliani, Pietro L, Cominelli, Manuela, Pagani, Francesca, Capra, Miriam, Calza, Stefano, Prioni, Simona, Mauri, Laura, Prinetti, Alessandro, Kofler, Julia K, Escolar, Maria L, Presta, Marco

Θεματικοί όροι: CNS, GALC, Krabbe disease, PTX3, neuroinflammation, sphingolipidosis, Animals, Central Nervous System, Disease Models, Animal, Humans, Mice, Transgenic, Psychosine, Galactosylceramidase, Leukodystrophy, Globoid Cell, Nerve Tissue Proteins

Relation: info:eu-repo/semantics/altIdentifier/pmid/36012705; info:eu-repo/semantics/altIdentifier/wos/WOS:000845797900001; volume:23; issue:16; firstpage:9436; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/20.500.11768/146096

Διαθεσιμότητα: https://hdl.handle.net/20.500.11768/146096
https://doi.org/10.3390/ijms23169436
https://www.mdpi.com/1422-0067/23/16/9436