Works matching DE "METACHROMATIC leukodystrophy"

Results: 167

Sedation for children with metachromatic leukodystrophy undergoing MRI.

Published in:

Pediatric Anesthesia, 2007, v. 17, n. 1, p. 64, doi. 10.1111/j.1460-9592.2006.02002.x

By:

MATTIOLI, CRISTINA;
GEMMA, MARCO;
BALDOLI, CRISTINA;
SESSA, MARIA;
ALBERTIN, ANDREA;
BERETTA, LUIGI

Publication type:

Article

Diffusion-weighted MR imaging in leukodystrophies.

Published in:

2005

By:

Patay, Zoltan

Publication type:

journal article

Infantile Metachromatic Leukodystrophy: Case Report.

Published in:

2023

By:

Hamad, Salsabeel;
Abufara, Israa;
Zagharneh, Safaa;
Abureesh, Taimaa;
Jobran, Afnan W. M.

Publication type:

Case Study

Autoantibodies to cerebroside sulphate (sulphatide) in leprosy.

Published in:

Clinical & Experimental Immunology, 1994, v. 98, n. 1, p. 145, doi. 10.1111/1365-2249.ep15985015

By:

Wheeler, P. R.;
Raynes, J. G.;
McAdam, K. P. W. J.

Publication type:

Article

A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E. coli sepsis.

Published in:

2011

By:

Unzicker, Alexandra;
Pingault, Veronique;
Meyer, Thomas;
Rauthe, Stephan;
Schütz, Ansgar;
Kunzmann, Steffen;
Schütz, Ansgar

Publication type:

journal article

Exon Deletion in the Non-catalytic Domain of eIF2Bℇ Due to a Splice Site Mutation Leads to Infantile Forms of CACH/VWM with Severe Decrease of eIF2B GEF Activity.

Published in:

Annals of Human Genetics, 2008, v. 72, n. 3, p. 410, doi. 10.1111/j.1469-1809.2007.00427.x

By:

Horzinski, L.;
Gonthier, C.;
Rodriguez, D.;
Scherer, C.;
Boespflug-Tanguy, O.;
Fogli, A.

Publication type:

Article

The Fate of 12 Recessive Mutations in A Single Village.

Published in:

Annals of Human Genetics, 2007, v. 71, n. 2, p. 202, doi. 10.1111/j.1469-1809.2006.00308.x

By:

Zlotogora, J.;
Hujerat, Y.;
Barges, S.;
Shalev, S. A.;
Chakravarti, A.

Publication type:

Article

Adult-onset metachromatic leukodystrophy with compound heterozygous ARSA gene mutation presented with mania and cognitive decline.

Published in:

2016

By:

Kok-Yoon Chee;
Abd Azize, Nor Azimah;
Mohd Zain, Norzaini Rose;
Phaik-Yee Ooi;
Loi-Khim Chin;
Omar, Affandi;
Yakob, Yusnita;
Jalil, Julaina Abdul

Publication type:

Case Study

Metachromatic Leukodystrophy.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 13, p. 1457, doi. 10.1177/0883073816656401

By:

Eichler, Florian S.;
Cox, Timothy M.;
Crombez, Eric;
Dali, Christine í;
Kohlschütter, Alfried

Publication type:

Article

Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation.

Published in:

Journal of Child Neurology, 2016, v. 31, n. 3, p. 338, doi. 10.1177/0883073815595078

By:

Chen, Xuqin;
Gill, Deepak;
Shaw, Peter;
Ouvrier, Robert;
Troedson, Christopher

Publication type:

Article

A 5-Year-Old Male Child With Late Infantile Metachromatic Leukodystrophy: A Case Report.

Published in:

2015

By:

Mahmood, Afreen;
Chacham, Swathi;
Reddy, Uppin Narayan;
Rao, Jillalla Narsing;
Rao, S. Pratap

Publication type:

Case Study

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 7, p. 876, doi. 10.1177/0883073810390038

By:

Orcesi, Simona;
La Piana, Roberta;
Uggetti, Carla;
Tonduti, Davide;
Pichiecchio, Anna;
Pasin, Moreno;
Viselner, Gisela;
Comi, Giacomo P.;
Del Bo, Roberto;
Ronchi, Dario;
Bastianello, Stefano;
Balottin, Umberto

Publication type:

Article

Vanishing White Matter Disease Associated With Ptosis and Myoclonic Seizures.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 3, p. 366, doi. 10.1177/0883073810381529

By:

Sharma, Suvasini;
Arya, Ravindra;
Raju, K.N. Vykunta;
Kumar, Atin;
Scheper, Gert C.;
van der Knaap, Marjo S.;
Gulati, Sheffali

Publication type:

Article

Intestinal Involvement in Metachromatic Leukodystrophy.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 1, p. 117, doi. 10.1177/0883073810378166

By:

Yavuz, Halûk;
Yüksekkaya, Hasan Ali

Publication type:

Article

Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 5, p. 572, doi. 10.1177/0883073809341669

By:

Mahmood, Asif;
Berry, Jay;
Wenger, David A.;
Escolar, Maria;
Sobeih, Magdi;
Raymond, Gerald;
Eichler, Florian S.

Publication type:

Article

An Unusual Homozygous Arylsulfatase: A Pseudodeficiency in a Metachromatic Leukodystrophy Tunisian Patient.

Published in:

Journal of Child Neurology, 2010, v. 25, n. 1, p. 82, doi. 10.1177/0883073809334382

By:

Tinsa, Faten;
Caillaud, Catherine;
Vanier, Marie Thérèse;
Bousnina, Dorra;
Boussetta, Khadija;
Bousnina, Souad

Publication type:

Article

Stabilization of Juvenile Metachromatic Leukodystrophy After Bone Marrow Transplantation: A 13-Year Follow-up.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 9, p. 1139, doi. 10.1177/0883073807306256

By:

Görg, Maria;
Wilck, Wanja;
Granitzny, Barbara;
Suerken, Anne;
Lukacs, Zoltan;
Xiaoqi Ding;
Schulte-Markwort, Michael;
Kohlschütter, Alfried

Publication type:

Article

Megalencephalic Leukoencephalopathy With Subcortical Cysts.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 646, doi. 10.1177/08830738030180091201

By:

Singhal, Bhim S.;
Gorospe, J. Rafael;
Naidu, Sakkubai

Publication type:

Article

Metachromatic Leukodystrophy: Recent Research Developments.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 591, doi. 10.1177/08830738030180090301

By:

Gieselmann, Volkmar

Publication type:

Article

Tissue Binding Patterns and In Vitro Effects of Campylobacter jejuni DNA-Binding Protein from Starved Cells.

Published in:

Neurochemical Research, 2011, v. 36, n. 1, p. 58, doi. 10.1007/s11064-010-0263-7

By:

Piao, Hua;
Minohara, Motozumi;
Kawamura, Nobutoshi;
Li, Wei;
Matsushita, Takuya;
Yamasaki, Ryo;
Mizunoe, Yoshimitsu;
Kira, Jun-ichi

Publication type:

Article

Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia.

Published in:

2015

By:

Hsiang-Ru Liaw;
Hsiu-Fen Lee;
Ching-Shiang Chi;
Chi-Ren Tsai;
Liaw, Hsiang-Ru;
Lee, Hsiu-Fen;
Chi, Ching-Shiang;
Tsai, Chi-Ren

Publication type:

journal article

Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0313-y

By:

Boucher, Alexander A.;
Miller, Weston;
Shanley, Ryan;
Ziegler, Richard;
Lund, Troy;
Raymond, Gerald;
Orchard, Paul J.

Publication type:

Article

N-CAM Dysfunction and Unexpected Accumulation of PSA-NCAM in Brain of Adult-Onset Autosomal-Dominant Leukodystrophy.

Published in:

Brain Pathology, 2010, v. 20, n. 2, p. 431, doi. 10.1111/j.1750-3639.2009.00313.x

By:

Piccinini, Marco;
Buccinnà, Barbara;
De Marco, Giovanni;
Lupino, Elisa;
Ramondetti, Cristina;
Grifoni, Silvia;
Votta, Barbara;
Giordana, Maria Teresa;
Rinaudo, Maria Teresa

Publication type:

Article

Cell-surface arylsulfatase A and B on sinusoidal endothelial cells, hepatocytes, and Kupffer cells in mammalian livers.

Published in:

Medical Molecular Morphology, 2009, v. 42, n. 2, p. 63, doi. 10.1007/s00795-009-0447-x

By:

Mitsunaga-Nakatsubo, Keiko;
Kusunoki, Shinichiro;
Kawakami, Hayato;
Akasaka, Koji;
Akimoto, Yoshihiro

Publication type:

Article

Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.

Published in:

Folia Neuropathologica, 2006, v. 44, n. 2, p. 144

By:

Mierzewska, Hanna;
van der Knaap, Marjo S.;
Scheper, Gert C.;
Jurkiewicz, Elzbieta;
Schmidt-Sidor, Bogna;
Szymanska, Krystyna

Publication type:

Article

INFANTILE MITOCHONDRIAL LEUKODYSTROPHY -- A CASE REPORT.

Published in:

2005

By:

Schmidt-Sidor, B.;
Szymańska, K.;
Lewandowska, E.;
Mierzewska, H.;
Wierzba-Bobrowicz, T.;
Pasennik, E.;
Stępień, T.

Publication type:

Abstract

Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells.

Published in:

Biological Chemistry, 2009, v. 390, n. 1, p. 41, doi. 10.1515/BC.2009.009

By:

Klein, Diana;
Yaghootfam, Afshin;
Matzner, Ullrich;
Koch, Bettina;
Braulke, Thomas;
Gieselmann, Volkmar

Publication type:

Article

Selective lack of the C16:0 fatty acid isoform of sulfatide in pancreas of type II diabetic animal models.

Published in:

APMIS, 2003, v. 111, n. 9, p. 867, doi. 10.1034/j.1600-0463.2003.1110905.x

By:

BLOMQVIST, MARIA;
OSTERBYE, THOMAS;
MÅNSSON, JAN-ERIC;
HORN, THOMAS;
BUSCHARD, KARSTEN;
FREDMAN, PAM

Publication type:

Article

Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy...

Published in:

1994

By:

Schwankhaus, John D.;
Smith, Jeanette M.

Publication type:

Abstract

Oligodendroglial Progenitor Cell Therapy Limits Central Neurological Deficits in Mice with Metachromatic Leukodystrophy.

Published in:

Journal of Neuroscience, 2006, v. 26, n. 12, p. 3109, doi. 10.1523/JNEUROSCI.4366-05.2006

By:

Givogri, Maria I.;
Galbiati, Francesca;
Fasano, Stefania;
Amadio, Stefano;
Perani, Laura;
Superchi, Daniela;
Morana, Pablo;
Del Carro, Ubaldo;
Marchesini, Sergio;
Brambilla, Riccardo;
Wrabetz, Lawrence;
Bongarzone, Ernesto

Publication type:

Article

Metachromatic Leukodystrophy.

Published in:

Acta Radiologica, 2003, v. 44, n. 4, p. 440, doi. 10.1034/j.1600-0455.2003.00094.x

By:

Sener, R. N.

Publication type:

Article

Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice.

Published in:

Lipids in Health & Disease, 2011, v. 10, n. 1, p. 28, doi. 10.1186/1476-511X-10-28

By:

Blomqvist, Maria;
Gieselmann, Volkmar;
Månsson, Jan-Eric

Publication type:

Article

Modest phenotypic improvements in ASA-deficient mice with only one UDP-galactose:ceramide-galactosyltransferase gene.

Published in:

Lipids in Health & Disease, 2006, v. 5, p. 21, doi. 10.1186/1476-511X-5-21

By:

Franken, S.;
Wittke, D.;
Mansson, J. E.;
D'Hooge, R.;
De Deyn, P. P.;
Lüllmann-Rauch, R.;
Matzner, U.;
Gieselmann, V.

Publication type:

Article

Induction of Tolerance to Human Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy.

Published in:

Molecular Medicine, 2007, v. 13, n. 9/10, p. 471, doi. 10.2119/2007-00063Matzner

By:

Matzner, Ulrich;
Matthes, Frank;
Herbst, Eva;
Lüllmann-Rauch, Renate;
Callaerts-Vegh, Zsuzsanna;
D’Hooge, Rudi;
Weigelt, Cecilia;
Eistrup, Carl;
Fogh, Jens;
Gieselmann, Volkmar

Publication type:

Article

The neuronal metabolite NAA regulates histone H3 methylation in oligodendrocytes and myelin lipid composition.

Published in:

Experimental Brain Research, 2017, v. 235, n. 1, p. 279, doi. 10.1007/s00221-016-4789-z

By:

Singhal, N.;
Huang, H.;
Li, S.;
Clements, R.;
Gadd, J.;
Daniels, A.;
Kooijman, E.;
Bannerman, P.;
Burns, T.;
Guo, F.;
Pleasure, D.;
Freeman, E.;
Shriver, L.;
McDonough, J.

Publication type:

Article

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.

Published in:

Human Genetics, 2002, v. 110, n. 4, p. 351, doi. 10.1007/s00439-002-0701-y

By:

Regis, Stefano;
Corsolini, Fabio;
Stroppiano, Marina;
Cusano, Roberto;
Filocamo, Mirella

Publication type:

Article

Hypothalamic haemorrhage and thalamus degeneration in a case of Nasu‐Hakola disease with hallucinatory symptoms and central hypothermia.

Published in:

Neuropathology & Applied Neurobiology, 2000, v. 26, n. 1, p. 98, doi. 10.1046/j.1365-2990.2000.00224.x

By:

Kobayashi, K.;
Kobayashi, E.;
Miyazu, K.;
Muramori, F.;
Hiramatsu, S.;
Aoki, T.;
Nakamura, I.;
Koshino, Y.

Publication type:

Article

Metachromatic Leukodystrophy and Nonverbal Learning Disability: Neuropsychological and Neuroradiological Findings in Heterozygous Carriers.

Published in:

Child Neuropsychology, 2001, v. 7, n. 1, p. 54, doi. 10.1076/chin.7.1.54.3146

By:

Weber Byars, Anna M.;
Mark, McKellop J.;
Kunsang, Gyato;
Tom, Sullivan;
David, N.

Publication type:

Article

Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.

Published in:

Bone Marrow Transplantation, 2014, v. 49, n. 8, p. 1046, doi. 10.1038/bmt.2014.93

By:

Solders, M;
Martin, D A;
Andersson, C;
Remberger, M;
Andersson, T;
Ringdén, O;
Solders, G

Publication type:

Article

Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort.

Published in:

Bone Marrow Transplantation, 2013, v. 48, n. 3, p. 369, doi. 10.1038/bmt.2012.155

By:

Krägeloh-Mann, I;
Groeschel, S;
Kehrer, C;
Opherk, K;
Nägele, T;
Handgretinger, R;
Müller, I

Publication type:

Article

Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature.

Published in:

Bone Marrow Transplantation, 2011, v. 46, n. 8, p. 1071, doi. 10.1038/bmt.2010.252

By:

de Hosson, L. D.;
van de Warrenburg, B. P. C.;
Preijers, F. W. M. B.;
Blijlevens, N. M. A.;
van der Reijden, B. A.;
Kremer, H. P. H.;
Lefeber, D. J.;
Allebes, W. A.;
Al-Ali, H.;
Niederwieser, D. W.;
Schaap, N. P. M.;
Schattenberg, A. V. M. B.

Publication type:

Article

Metachromatic leukodystrophy: an overview of current and prospective treatments.

Published in:

Bone Marrow Transplantation, 2008, v. 42, p. S2, doi. 10.1038/bmt.2008.275

By:

Biffi, A.;
Lucchini, G.;
Rovelli, A.;
Sessa, M.

Publication type:

Article

Central Precocious Puberty in a Child With Metachromatic Leukodystrophy.

Published in:

Frontiers in Endocrinology, 2018, p. N.PAG, doi. 10.3389/fendo.2018.00497

By:

Belli, Gilda;
Bartolini, Emanuele;
Bianchi, Andrea;
Mascalchi, Mario;
Stagi, Stefano

Publication type:

Article

Metakromatik Lökodistrofili Pediyatrik Bir Hastada Anestezi Yönetimi.

Published in:

Journal of the Turkish Anaesthesiology & Intensive Care Society - JTAICS / Türk Anestezi ve Reanimasyon Dergisi, 2010, v. 38, n. 5, p. 383

By:

Cuvaş, Özgün;
Eruyar, Solmaz;
Ceyhan, Ayşegül

Publication type:

Article

Comparison of Five Peptide Vectors for Improved Brain Delivery of the Lysosomal Enzyme Arylsulfatase A.

Published in:

Journal of Neuroscience, 2014, v. 34, n. 9, p. 3122, doi. 10.1523/JNEUROSCI.4785-13.2014

By:

Böckenhoff, Annika;
Cramer, Sandra;
Wölte, Philipp;
Knieling, Simeon;
Wohlenberg, Claudia;
Gieselmann, Volkmar;
Galla, Hans-Joachim;
Matzner, Ulrich

Publication type:

Article

C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Published in:

Nature Genetics, 2007, v. 39, n. 9, p. 1068, doi. 10.1038/ng2082

By:

Richards, Anna;
van den Maagdenberg, Arn M. J. M.;
Jen, Joanna C.;
Kavanagh, David;
Bertram, Paula;
Spitzer, Dirk;
Liszewski, M. Kathryn;
Barilla-LaBarca, Maria-Louise;
Terwindt, Gisela M.;
Kasai, Yumi;
McLellan, Mike;
Grand, Mark Gilbert;
Vanmolkot, Kaate R. J.;
de Vries, Boukje;
Jijun Wan;
Kane, Michael J.;
Mamsa, Hafsa;
Schäfer, Ruth;
Stam, Anine H.;
Haan, Joost

Publication type:

Article

Multidetector CT diagnosis of massive hemobilia due to gallbladder polyposis in a child with metachromatic leukodystrophy.

Published in:

2015

By:

Wanner, Matthew;
Karmazyn, Boaz;
Fan, Rong;
Wanner, Matthew R

Publication type:

journal article

Gallbladder polyposis in metachromatic leukodystrophy.

Published in:

Pediatric Radiology, 2013, v. 43, n. 5, p. 631, doi. 10.1007/s00247-012-2523-y

By:

Agarwal, Aanchal;
Shipman, Peter

Publication type:

Article

Tigroid pattern of the white matter: a previously unrecognized MR finding in lissencephaly with cerebellar hypoplasia.

Published in:

Pediatric Radiology, 2008, v. 38, n. 10, p. 1105, doi. 10.1007/s00247-008-0909-7

By:

Kono, Tatsuo;
Moriyama, Nobuko;
Tanaka, Ryuta;
Iwasaki, Nobuaki;
Jun-ichi Arai

Publication type:

Article

Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.

Published in:

Glycobiology, 2010, v. 20, n. 2, p. 248, doi. 10.1093/glycob/cwp171

By:

Schröder, Stephan;
Matthes, Frank;
Hyden, Pia;
Andersson, Claes;
Fogh, Jens;
Müller-Loennies, Sven;
Braulke, Thomas;
Gieselmann, Volkmar;
Matzner, Ulrich

Publication type:

Article