Works matching Metachromatic leukodystrophy

Results: 529

Leucodistrofia metacromatică forma juvenilă: cazul unor surori gemene.

Published in:

Journal for Neurology & Psychiatry of Child & Adolescent in Romania, 2015, v. 18, n. 4, p. 67

By:

Nussbaum, Laura;
Wagentrist, Peter;
Corcheş, Axinia;
Ageu, Luminiţa;
Hogea, Lavinia;
Micu-Şerbu, Bianca;
Morariu, Daiana;
Dragoş, Doina;
Nussbaum, Liliana;
Todica, Andrei

Publication type:

Article

Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options.

Published in:

Acta Paediatrica, 2008, p. 15, doi. 10.1111/j.1651-2227.2008.00648.x

By:

Gieselmann, Volkmar

Publication type:

Article

Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.

Published in:

Clinical Genetics, 2005, v. 68, n. 1, p. 48, doi. 10.1111/j.1399-0004.2005.00451.x

By:

Ługowska, A.;
Berger, J.;
Tylki-Szymańska, A.;
Löschl, B.;
Molzer, B.;
Zobel, M.;
Czartoryska, B.

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

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

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

Missense mutations as a cause of metachromatic leukodystrophy.

Published in:

FEBS Journal, 2005, v. 272, n. 5, p. 1179, doi. 10.1111/j.1742-4658.2005.04553.x

By:

Poeppel, Peter;
Habetha, Matthias;
Marcão, Ana;
Büssow, Heinrich;
Berna, Linda;
Gieselmann, Volkmar

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

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

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

Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale.

Published in:

Journal of Patient-Reported Outcomes, 2018, v. 2, n. 1, p. N.PAG, doi. 10.1186/s41687-018-0041-x

By:

Brown, T. Michelle;
Martin, Susan;
Fehnel, Sheri E.;
Deal, Linda S.

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

Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers.

Published in:

2019

By:

Harrington, Magdalena;
Whalley, Diane;
Twiss, James;
Rushton, Rebecca;
Martin, Susan;
Huynh, Lynn;
Yang, Hongbo

Publication type:

journal article

Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report.

Published in:

Journal of Neural Transmission, 2012, v. 119, n. 7, p. 759, doi. 10.1007/s00702-012-0826-7

By:

Tarasiuk, Joanna;
Kapica-Topczewska, Katarzyna;
Kułakowska, Alina;
Halicka, Dorota;
Drozdowski, Wiesław;
Kornhuber, Johannes;
Lewczuk, Piotr

Publication type:

Article

Gallbladder Polyps in Metachromatic Leukodystrophy.

Published in:

Fetal & Pediatric Pathology, 2018, v. 37, n. 2, p. 102, doi. 10.1080/15513815.2018.1424277

By:

Almarzooqi, Saeeda;
Quadri, Asif;
Albawardi, Alia

Publication type:

Article

Pathology of the Gallbladder in a Child with Metachromatic Leukodystrophy.

Published in:

Pediatric & Developmental Pathology, 2015, v. 18, n. 3, p. 228, doi. 10.2350/14-09-1551-CR.1

By:

MCFADDEN, KATHRYN;
RANGANATHAN, SARANGARAJAN

Publication type:

Article

Clinical Profile of Late-Infantile and Juvenile Metachromatic Leukodystrophy: A Retrospective Study.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2022, v. 75, n. 4, p. 544, doi. 10.4274/atfm.galenos.2022.87004

By:

Günbey, Ceren;
Ardıçlı, Didem;
Oğuz, Kader Karlı;
Topçu, Meral

Publication type:

Article

Molecular bases of metachromatic leukodystrophy in Polish patients.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 6, p. 394, doi. 10.1038/jhg.2010.25

By:

Ługowska, Agnieszka;
Płoski, Rafał;
Włodarski, Paweł;
Tylki-Szymańska, Anna

Publication type:

Article

Metachromatic Leukodystrophy and Its Effects on the Gallbladder: A Case Report.

Published in:

Ultrastructural Pathology, 2011, v. 35, n. 6, p. 271, doi. 10.3109/01913123.2011.620730

By:

Rodriguez-Waitkus, Paul M.;
Byrd, Robert;
Hicks, John

Publication type:

Article

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.

Published in:

Therapeutics & Clinical Risk Management, 2017, v. 13, p. 725, doi. 10.2147/TCRM.S119967

By:

Manshadi, Masoumeh Dehghan;
Kamalidehghan, Behnam;
Aryani, Omid;
Khalili, Elham;
Dadgar, Sepideh;
Tondar, Mahdi;
Ahmadipour, Fatemeh;
Goh Yong Meng;
Houshmand, Massoud

Publication type:

Article

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.

Published in:

Clinical Genetics, 2009, v. 75, n. 2, p. 175, doi. 10.1111/j.1399-0004.2008.01113.x

By:

Bisgaard, A.-M.;
Kirchhoff, M.;
Nielsen, J. E.;
Kibæk, M.;
Lund, A.;
Schwartz, M.;
Christensen, E.

Publication type:

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

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-18

By:

Kehrer, Christiane;
Groeschel, Samuel;
Kustermann-Kuhn, Birgit;
Bürger, Friederike;
Köhler, Wolfgang;
Kohlschütter, Alfried;
Bley, Annette;
Steinfeld, Robert;
Gieselmann, Volkmar;
Krägeloh-Mann, Ingeborg

Publication type:

Article

Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: A case report and phenotypic comparison with a previously reported case.

Published in:

Psychiatry & Clinical Neurosciences, 2011, v. 65, n. 1, p. 105, doi. 10.1111/j.1440-1819.2010.02169.x

By:

Hayashi, Takehiro;
Nakamura, Masayuki;
Ichiba, Mio;
Matsuda, Mieko;
Kato, Maiko;
Shiokawa, Nari;
Shimo, Hirochika;
Tomiyasu, Akiyuki;
Mori, Satsuki;
Tomiyasu, Yoko;
Ishizuka, Takanori;
Inamori, Yukie;
Okamoto, Yuji;
Umehara, Fujio;
Arimura, Kimiyoshi;
Nakabeppu, Yoshiaki;
Sano, Akira

Publication type:

Article

Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia.

Published in:

Psychiatry & Clinical Neurosciences, 1999, v. 53, n. 3, p. 425, doi. 10.1046/j.1440-1819.1999.00569.x

By:

Fukutani, Yuken;
Noriki, Yoko;
Sasaki, Kazuo;
Isaki, Kiminori;
Kuriyama, Masaru;
Kurosawa, Kenji;
Ida, Hiroyuki;
Fukutani, Y.

Publication type:

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

Seizures as a presenting feature of late onset metachromatic leukodystrophy.

Published in:

Acta Neurologica Scandinavica, 2000, v. 102, n. 3, p. 192, doi. 10.1034/j.1600-0404.2000.102003192.x

By:

Bostantjopoulou, S.;
Katsarou, Z.;
Michelakaki, H.;
Kazis, A.

Publication type:

Article

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

Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer.

Published in:

Gene Therapy, 2007, v. 14, n. 5, p. 405, doi. 10.1038/sj.gt.3302883

By:

Sevin, C.;
Verot, L.;
Benraiss, A.;
Van Dam, D.;
Bonnin, D.;
Nagels, G.;
Fouquet, F.;
Gieselmann, V.;
Vanier, M. T.;
De Deyn, P. P.;
Aubourg, P.;
Cartier, N.

Publication type:

Article

Embryonic stem cell-based reduction of central nervous system sulfatide storage in an animal model of metachromatic leukodystrophy.

Published in:

Gene Therapy, 2006, v. 13, n. 24, p. 1686, doi. 10.1038/sj.gt.3302834

By:

Klein, D.;
Schmandt, T.;
Muth-Köhne, E.;
Perez-Bouza, A.;
Segschneider, M.;
Gieselmann, V.;
Brüstle, O.

Publication type:

Article

Prevalence of Arylsulfatase A Pseudodeficiency Allele in Metachromatic Leukodystrophy Patients from Poland.

Published in:

European Neurology, 2000, v. 44, n. 2, p. 104, doi. 10.1159/000008205

By:

Ługowska, Agnieszka;
Czartoryska, Barbara;
Tylki-Szymańska, Anna;
Bisko, Mariola;
Zimowski, Janusz G.;
Berger, Johannes;
Molzer, Brunhilde

Publication type:

Article

Practical Suggestions in Diagnosing Metachromatic Leukodystrophy in Probands andin Testing Family Members.

Published in:

European Neurology, 1998, v. 40, n. 2, p. 67, doi. 10.1159/000007960

By:

Tylki-Szymańska, Anna;
Czartoryska, Barbara;
Ługowska, Agnieszka

Publication type:

Article

Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case report.

Published in:

Neuroradiology, 2005, v. 47, n. 8, p. 572, doi. 10.1007/s00234-005-1369-5

By:

Toldo, Irene;
Carollo, Carla;
Battistella, Pier Antonio;
Laverda, Anna Maria

Publication type:

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

Increasing Sulfatide Synthesis in Myelin-Forming Cells of Arylsulfatase A-Deficient Mice Causes Demyelination and Neurological Symptoms Reminiscent of Human Metachromatic Leukodystrophy.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 35, p. 9482, doi. 10.1523/JNEUROSCI.2287-07.2007

By:

Ramakrishnan, Hariharasubramanian;
Khalaj Hedayati, Kerstin;
Lüllmann-Rauch, Renate;
Wessig, Carsten;
Ngamli Fewou, Simon;
Maier, Helena;
Goebel, Hans-Hilmar;
Gieselmann, Volkmar;
Eckhardt, Matthias

Publication type:

Article

Sulfatide Storage in Neurons Causes Hyperexcitability and Axonal Degeneration in a Mouse Model of Metachromatic Leukodystrophy.

Published in:

Journal of Neuroscience, 2007, v. 27, n. 34, p. 9009, doi. 10.1523/JNEUROSCI.2329-07.2007

By:

Eckhardt, Matthias;
Hedayati, Kerstin Khalaj;
Pitsch, Julika;
Lüllmann-Rauch, Renate;
Beck, Heinz;
Fewou, Simon Ngamli;
Gieselmann, Volkmar

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

An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 2, p. 125, doi. 10.1038/sj.ejhg.5200266

By:

Regis, Stefano;
Filocamo, Mirella;
Corsolini, Fabio;
Caroli, Francesco;
Keulemans, Joke LM;
Diggelen, Otto P van;
Gatti, Rosanna

Publication type:

Article

Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed?

Published in:

PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020218

By:

Lugowska, Agnieszka;
Ponińska, Joanna;
Krajewski, Paweł;
Broda, Grażyna;
Płoski, Rafał

Publication type:

Article

Intrathecal baclofen in metachromatic leukodystrophy.

Published in:

2019

By:

Veldt, Nikki;
Rappard, Diane F;
Pol, Laura A;
Knaap, Marjo S;
Ouwerkerk, Willem J R;
Becher, Jules G;
Wolf, Nicole I;
Buizer, Annemieke I;
van der Veldt, Nikki;
van Rappard, Diane F;
van de Pol, Laura A;
van der Knaap, Marjo S;
van Ouwerkerk, Willem J R

Publication type:

Case Study

General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy.

Published in:

Pediatric Anesthesia, 2019, v. 29, n. 10, p. 1053, doi. 10.1111/pan.13714

By:

Bascou, Nicholas A.;
Marcos, Maria C.;
Beltran Quintero, Maria L.;
Roosen‐Marcos, Mercedes C.;
Cladis, Franklyn P.;
Poe, Michele D.;
Escolar, Maria L.;
Veyckemans, Francis

Publication type:

Article

Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy.

Published in:

2016

By:

Kohlmann, Rebekka;
Barenberg, Karin;
Anders, Agnes;
Gatermann, Sören G.

Publication type:

Case Study

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

Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD)(Online Citation: Human Mutation, Mutation in Brief #661 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/661.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 418, doi. 10.1002/humu.9190

By:

Barry Eng;
Lisa N. Nakamura;
Natasha O'Reilly;
Natasha Schokman;
Magorzata M.J. Nowaczyk;
William Krivit

Publication type:

Article

Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2017, v. 4, n. 6, p. 403, doi. 10.1002/acn3.420

By:

Strölin, Manuel;
Krägeloh‐Mann, Ingeborg;
Kehrer, Christiane;
Wilke, Marko;
Groeschel, Samuel

Publication type:

Article

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 9, p. 932, doi. 10.1002/acn3.232

By:

Tillema, Jan‐Mendelt;
Derks, Marloes G.M.;
Pouwels, Petra J. W.;
Graaf, Pim;
Rappard, Diane F.;
Barkhof, Frederik;
Steenweg, Marjan E.;
Knaap, Marjo S.;
Wolf, Nicole I.

Publication type:

Article