Works matching DE "GLOBOID cell leukodystrophy"

Results: 194

Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 10, doi. 10.3390/ijns10010010

By:

Matern, Dietrich;
Basheeruddin, Khaja;
Klug, Tracy L.;
McKee, Gwendolyn;
Edge, Patricia U.;
Hall, Patricia L.;
Kurtzberg, Joanne;
Orsini, Joseph J.

Publication type:

Article

Newborn Screening Is on a Collision Course with Public Health Ethics.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 51, doi. 10.3390/ijns8040051

By:

Currier, Robert J.

Publication type:

Article

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 61, doi. 10.3390/ijns8040061

By:

Jalal, Kabir;
Carter, Randy L.;
Barczykowski, Amy;
Tomatsu, Shunji;
Langan, Thomas J.

Publication type:

Article

The neuropathology of phenylketonuria: human and animal studies.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 14, p. S102, doi. 10.1007/PL00014371

By:

Huttenlocher, Peter R.

Publication type:

Article

Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 9, p. 985, doi. 10.1038/ejhg.2010.61

By:

Diekmann, Simone;
Henneke, Marco;
Burckhardt, Birgitta C.;
Gärtner, Jutta

Publication type:

Article

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Published in:

2004

By:

Goizet, Cyril;
Coupry, Isabelle;
Rooryck, Caroline;
Taine, Laurence;
Dormoy, Virginie;
Lacombe, Didier;
Arveiler, Benoît

Publication type:

Report

Impaired spermatogenesis in the twitcher mouse: A morphological evaluation from the seminiferous tubules to epididymal transit.

Published in:

Systems Biology in Reproductive Medicine, 2017, v. 63, n. 2, p. 77, doi. 10.1080/19396368.2016.1271918

By:

Luddi, Alice;
Gori, Martina;
Crifasi, Laura;
Marrocco, Camilla;
Belmonte, Giuseppe;
Costantino-Ceccarini, Elvira;
Piomboni, Paola

Publication type:

Article

Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor.

Published in:

European Journal of Neurology, 2008, v. 15, n. 1, p. 94, doi. 10.1111/j.1468-1331.2007.01999.x

By:

Peter, L.;
Niel, F.;
Catenoix, H.;
Jung, J.;
Demarquay, G.;
Petiot, P.;
Rudigoz, R. C.;
Boespflug-Tanguy, O.;
Ryvlin, P.;
Mauguière, F.

Publication type:

Article

Diagnóstico de leucodistrofia de Krabbe por microscopia electrónica de transmisión. Informe de un paciente.

Published in:

Cirugía y Cirujanos, 2006, v. 74, n. 6, p. 477

By:

Villegas-Castrejón, Hilda;
Hernández-Pérez, Alma Delia;
Peralta, Sergio;
Vázquez-Escamilla, Jesús;
Reyes-Marín, Baltasar

Publication type:

Article

Doença de Krabbe: a importância do diagnóstico precoce para seu prognóstico.

Published in:

Einstein (16794508), 2012, v. 10, n. 2, p. 233, doi. 10.1590/S1679-45082012000200019

By:

Sano, Tatiana Suemi

Publication type:

Article

Epidemiology of lysosomal storage diseases in Sweden.

Published in:

Acta Paediatrica, 2014, v. 103, n. 12, p. 1258, doi. 10.1111/apa.12807

By:

Hult, Malin;
Darin, Niklas;
Döbeln, Ulrika;
Månsson, Jan‐Eric

Publication type:

Article

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Published in:

2019

By:

Beltran-Quintero, Maria L.;
Bascou, Nicholas A.;
Poe, Michele D.;
Wenger, David A.;
Saavedra-Matiz, Carlos A.;
Nichols, Matthew J.;
Escolar, Maria L.

Publication type:

journal article

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.

Published in:

2018

By:

Bascou, Nicholas;
DeRenzo, Anthony;
Poe, Michele D.;
Escolar, Maria L.

Publication type:

journal article

Adult Onset Leukodystrophy with Neuroaxonal Spheroids: Clinical, Neuroimaging and Neuropathologic Observations.

Published in:

Brain Pathology, 2009, v. 19, n. 1, p. 39, doi. 10.1111/j.1750-3639.2008.00163.x

By:

Freeman, Stefanie H.;
Hyman, Bradley T.;
Sims, Katherine B.;
Hedley-Whyte, E. T.;
Vossough, Arastoo;
Frosch, Matthew P.;
Schmahmann, Jeremy D.

Publication type:

Article

EIF2B5 mutations compromise GFAP<sup>+</sup> astrocyte generation in vanishing white matter leukodystrophy.

Published in:

Nature Medicine, 2005, v. 11, n. 3, p. 277, doi. 10.1038/nm1195

By:

Dietrich, Jörg;
Lacagnina, Michelle;
Gass, David;
Richfield, Eric;
Mayer-Pröschel, Margot;
Noble, Mark;
Torres, Carlos;
Pröschel, Christoph

Publication type:

Article

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

Published in:

Nature Genetics, 1999, v. 21, n. 3, p. 260, doi. 10.1038/6772

By:

Schuelke, Markus;
Smeitink, Jan;
Mariman, Edwin;
Loeffen, Jan;
Plecko, Barbara;
Trijbels, Frans;
Stöckler-Ipsiroglu, Sylvia;
Heuvel, Lambert van den

Publication type:

Article

Detection of the Neurotoxin Psychosine in Samples of Peripheral Blood: Application in Diagnostics and Followup of Krabbe Disease.

Published in:

2012

By:

HONGLING ZHU;
LOPEZ-ROSAS, AURORA;
BONGARZONE, ERNESTO R.;
XI QIU;
VAN BREEMEN, RICHARD B.

Publication type:

Letter

Feasibility study of single region lambda chart analysis for pyramidal tract physiology.

Published in:

Journal of Neurology, 2003, v. 250, n. 10, p. 1185, doi. 10.1007/s00415-003-0175-4

By:

Yuji Suzuki;
Hitoshi Matsuzawa;
Tsutomu Nakada

Publication type:

Article

Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.

Published in:

Journal of Neurology, 2000, v. 247, n. 11, p. 875, doi. 10.1007/s004150070076

By:

Selleri, S.;
Torchiana, E.;
Pareyson, D.;
Lulli, L.;
Bertagnolio, B;
Savoiardo, M.;
Farina, L.;
Carrara, F.;
Filocamo, M.;
Gatti, R.;
Sghirlanzoni, A.;
Uziel, G.;
Finocchiaro, G.

Publication type:

Article

Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease.

Published in:

Journal of Neurology, 2000, v. 247, n. 3, p. 226, doi. 10.1007/s004150050571

By:

De Stefano, N.;
Dotti, M. T.;
Mortilla, M.;
Pappagallo, E.;
Luzi, P.;
Rafi, M. A.;
Formichi, P.;
Inzitari, D.;
Wenger, D. A.;
Federico, A.

Publication type:

Article

Axonopathy is a compounding factor in the pathogenesis of Krabbe disease.

Published in:

Acta Neuropathologica, 2011, v. 122, n. 1, p. 35, doi. 10.1007/s00401-011-0814-2

By:

Castelvetri, Ludovico;
Givogri, Maria;
Zhu, Hongling;
Smith, Benjamin;
Lopez-Rosas, Aurora;
Qiu, Xi;
Breemen, Richard;
Bongarzone, Ernesto

Publication type:

Article

Peripheral neuropathy in the twitcher mouse: accumulation of extracellular matrix in the endoneurium and aberrant expression of ion channels.

Published in:

Acta Neuropathologica, 2008, v. 115, n. 5, p. 577, doi. 10.1007/s00401-007-0333-3

By:

Kagitani-Shimono, Kuriko;
Mohri, Ikuko;
Yagi, Takashi;
Taniike, Masako;
Suzuki, Kinuko

Publication type:

Article

MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet.

Published in:

Acta Neuropathologica, 2007, v. 114, n. 4, p. 403, doi. 10.1007/s00401-007-0247-0

By:

Boor, Ilja;
Nagtegaal, Machiel;
Kamphorst, Wouter;
van der Valk, Paul;
Pronk, Jan C.;
van Horssen, Jack;
Dinopoulos, Argirios;
Bove, Kevin E.;
Pascual-Castroviejo, Ignacio;
Muntoni, Francesco;
Estévez, Raúl;
Scheper, Gert C.;
van der Knaap, Marjo S.

Publication type:

Article

Adreno-leukodystrophy: a personal historical note.

Published in:

Acta Neuropathologica, 2005, v. 109, n. 1, p. 124, doi. 10.1007/s00401-004-0961-9

By:

Powers, James

Publication type:

Article

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

Published in:

Acta Neuropathologica, 2004, v. 107, n. 6, p. 481, doi. 10.1007/s00401-004-0847-x

By:

Marotti, Jonathan D.;
Tobias, Sharon;
Fratkin, Jonathan D.;
Powers, James M.;
Rhodes, C. Harker

Publication type:

Article

Morphological alterations in the inner ear of the arylsulfatase A-deficient mouse.

Published in:

Acta Neuropathologica, 2001, v. 101, n. 5, p. 491, doi. 10.1007/s004010000318

By:

Coenen, R.;
Gieselmann, V.;
Lüllmann-Rauch, R.

Publication type:

Article

Neuroaxonal leukodystrophy associated with congenital cutis laxa: report of an autopsy case.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 4, p. 420, doi. 10.1007/s004010051144

By:

Shintaku, M.;
Uemura, Y.;
Fujii, I.;
Ohtani, Y.;
Miike, T.;
Tokunaga, M.;
Tsubura, A.

Publication type:

Article

Peripheral Neuropathy with Hypomyelinating Features in Adult-onset Krabbe's Disease.

Published in:

Journal of the Peripheral Nervous System, 2003, v. 8, n. 2, p. 128, doi. 10.1046/j.1529-8027.2003.03016_3.x

By:

Sabatelli, M;
Quaranta, L;
Madia, F;
Lippi, G;
Conte, A;
Lo Monaco, M;
Di Trapani, G;
Rafi, MA;
Wenger, DA;
Vaccaro, AM;
Tonali, P

Publication type:

Article

Substrate reduction therapy for Krabbe disease and metachromatic leukodystrophy using a novel ceramide galactosyltransferase inhibitor.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-93601-1

By:

Babcock, Michael C.;
Mikulka, Christina R.;
Wang, Bing;
Chandriani, Sanjay;
Chandra, Sundeep;
Xu, Yue;
Webster, Katherine;
Feng, Ying;
Nelvagal, Hemanth R.;
Giaramita, Alex;
Yip, Bryan K.;
Lo, Melanie;
Jiang, Xuntian;
Chao, Qi;
Woloszynek, Josh C.;
Shen, Yuqiao;
Bhagwat, Shripad;
Sands, Mark S.;
Crawford, Brett E.

Publication type:

Article

Vitamin K Antagonist Warfarin for Palliative Treatment of Metachromatic Leukodystrophy, A Compassionate Study of Four Subjects.

Published in:

Journal of Central Nervous System Disease, 2012, v. 4, n. 3, p. 1, doi. 10.4137/JCNSD.S9355

By:

Assadi, Mitra;
Wang, Dah-Jyuu;
Anderson, Kelly;
Carran, Melissa;
Bilaniuk, Larissa;
Leone, Paola

Publication type:

Article

Leucodystrophies and Poliodystrophies (Book).

Published in:

1971

By:

Allen, Norman

Publication type:

Book Review

Central Nervous System Pathology Progresses Independently of KC and CXCR2 in Globoid-Cell Leukodystrophy.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0064647

By:

Reddy, Adarsh S.;
Patel, Jigisha R.;
Vogler, Carole;
Klein, Robyn S.;
Sands, Mark S.

Publication type:

Article

Region-Specific Expression of Mitochondrial Complex I Genes during Murine Brain Development.

Published in:

PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018897

By:

Wirtz, Stefanie;
Schuelke, Markus

Publication type:

Article

B-cell lymphoma with Mott cell differentiation in a cat.

Published in:

Veterinary Clinical Pathology, 2016, v. 45, n. 2, p. 356, doi. 10.1111/vcp.12343

By:

Kanehara, Tomomi;
Matsui, Naoko;
Murakami, Mami;
Maruo, Kohji;
Mori, Takashi;
Hirata, Akihiro;
Yanai, Tokuma;
Sakai, Hiroki

Publication type:

Article

Ethical issues with testing and treatment for Krabbe disease.

Published in:

2019

By:

Ehmann, Paul;
Lantos, John D

Publication type:

journal article

Recognizable phenotypes associated with intracranial calcification.

Published in:

Developmental Medicine & Child Neurology, 2013, v. 55, n. 1, p. 46, doi. 10.1111/j.1469-8749.2012.04437.x

By:

LIVINGSTON, JOHN H;
STIVAROS, STAVROS;
VAN DER KNAAP, MARJO S;
CROW, YANICK J

Publication type:

Article

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 4, p. 376, doi. 10.1111/j.1469-8749.2011.04167.x

By:

LIVINGSTON, JOHN H;
GRAZIANO, CLAUDIO;
PYSDEN, KAREN;
CROW, YANICK J;
MORDEKAR, SANTOSH R;
MORONI, ISABELLA;
UZIEL, GRAZIELLA

Publication type:

Article

Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy.

Published in:

FASEB Journal, 2007, v. 21, n. 10, p. 2520, doi. 10.1096/fj.06-6169com

By:

Wing C. Lee;
Yuen K. Tsoi;
Troendle, Frederick J.;
DeLucia, Michael W.;
Ahmed, Zeshan;
Dicky, Chad A.;
Dickson, Dennis W.;
Eckman, Christopher B.

Publication type:

Article

A comparative morphologic analysis of adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia -- a role for oxidative damage.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A401, doi. 10.1096/fasebj.21.5.a401

By:

Ali, Zarina Sultana;
Van Der Voorn, J. Patrick;
Powers, James M.

Publication type:

Article

Hepatic toxicity in twitcher mice: effect on peroxisomes.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A400, doi. 10.1096/fasebj.21.5.a400

By:

Contreras, Miguel A.;
Haq, Ehtishamul;
Singh, Inderjit;
Singh, Avtar K.

Publication type:

Article

Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy.

Published in:

FASEB Journal, 2005, v. 19, n. 11, p. 1549, doi. 10.1096/fj.05-3826fje

By:

Lee, Wing C.;
Courtenay, Andrew;
Troendle, Frederick J.;
Stallings-Mann, Melody L.;
Dickey, Chad A.;
DeLucia, Michael W.;
Dickson, Dennis W.;
Eckman, Christopher B.

Publication type:

Article

Thickening of the cauda equina roots: a common finding in Krabbe disease.

Published in:

2016

By:

Hwang, Misun;
Zuccoli, Giulio;
Panigrahy, Ashok;
Rodriguez, David;
Poe, Michele;
Escolar, Maria;
Poe, Michele D;
Escolar, Maria L

Publication type:

journal article

Hematopoietic Stem Cell Transplantation in Late-Onset Krabbe Disease: No Evidence of Worsening Demyelination and Axonal Loss 4 Years Post-allograft.

Published in:

2018

By:

Laule, Cornelia;
Vavasour, Irene M.;
Shahinfard, Elham;
Mädler, Burkhard;
Zhang, Jing;
Li, David K. B.;
MacKay, Alex L.;
Sirrs, Sandra M.

Publication type:

journal article

The 96th Neuropathological Meeting of Kyushu District 5 July 2008.

Published in:

2008

By:

Iwaki, Toru

Publication type:

Other

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 539, doi. 10.1038/jhg.2015.61

By:

Hossain, Mohammad Arif;
Higaki, Katsumi;
Saito, Seiji;
Ohno, Kazuki;
Sakuraba, Hitoshi;
Nanba, Eiji;
Suzuki, Yoshiyuki;
Ozono, Keiichi;
Sakai, Norio

Publication type:

Article

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 6, p. 548, doi. 10.1007/s10038-006-0396-3

By:

Chengzhe Xu;
Sakai, Norio;
Taniike, Masako;
Inui, Koji;
Ozono, Keiichi

Publication type:

Article

Steroid-induced hypertrophic cardiomyopathy following stem cell transplantation in a neonate: a case report.

Published in:

Bone Marrow Transplantation, 2001, v. 27, n. 10, p. 1105, doi. 10.1038/sj.bmt.1703029

By:

Lesnik, J J;
Singh, G K;
Balfour, I C;
Wall, D A

Publication type:

Article

An Infant With Myoclonic Jerks, Global Developmental Delay, and Failure to Thrive.

Published in:

Clinical Pediatrics, 2011, v. 50, n. 6, p. 570, doi. 10.1177/0009922810366736

By:

Chia-Wen Lee;
Bawle, Erawati V.

Publication type:

Article

A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

Published in:

2015

By:

ASHRAFI, Mahmoudreza;
TAVASOLI, Alireza;
KATIBEH, Pegah;
ARYANI, Omid;
VAFAEE-SHAHI, Mohammad

Publication type:

Case Study

Large‐scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

Published in:

Clinical Genetics, 2018, v. 93, n. 2, p. 248, doi. 10.1111/cge.13071

By:

Zhao, S.;
Zhan, X.;
Wang, Y.;
Ye, J.;
Han, L.;
Qiu, W.;
Gao, X.;
Gu, X.;
Zhang, H.

Publication type:

Article