Works matching DE "GLOBOID cell leukodystrophy"

Results: 194

Leucodystrophies and Poliodystrophies (Book).

Published in:

1971

By:

Allen, Norman

Publication type:

Book Review

The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease.

Published in:

Acta Neurologica Scandinavica, 2007, v. 116, n. 4, p. 268, doi. 10.1111/j.1600-0404.2007.00867.x

By:

Wang, C.;
Melberg, A.;
Weis, J.;
Månsson, J.-E.;
Raininko, R.

Publication type:

Article

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.

Published in:

Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 459, doi. 10.1111/j.1440-1754.2008.01340.x

By:

Srinivasan, Jayasri;
Coleman, Lee;
Kornberg, Andrew J.

Publication type:

Article

Van der Knaap syndrome, a case from West Bengal, India.

Published in:

2010

By:

Aditya, Subhra;
Gupta, R. Das;
Das, D.;
Roy, M. K.;
Dhibar, T.;
Das, T.

Publication type:

Case Study

Van der Knaap syndrome, a case from West Bengal, India.

Published in:

2010

By:

Aditya, Subhra;
Gupta, R. Das;
Das, D.;
Roy, M. K.;
Dhibar, T.;
Das, T.

Publication type:

Case Study

Quantitative DTI metrics in a canine model of Krabbe disease: comparisons versus age-matched controls across multiple ages.

Published in:

Neuroradiology Journal, 2018, v. 31, n. 2, p. 168, doi. 10.1177/1971400917733431

By:

Li, Jonathan Y.;
Middleton, Dana M.;
Chen, Steven;
White, Leonard;
Corado, Carley R.;
Vite, Charles;
Bradbury, Allison;
Provenzale, James M.

Publication type:

Article

Optic Nerve Enlargement in Krabbe Disease: A Pathophysiologic and Clinical Perspective.

Published in:

Journal of Child Neurology, 2011, v. 26, n. 5, p. 642, doi. 10.1177/0883073810387929

By:

Hussain, Syed A.;
Zimmerman, Holly H.;
Abdul-Rahman, Omar A.;
Hussaini, Syed M.;
Parker, Colette C.;
Khan, Majid

Publication type:

Article

Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 12, p. 1513, doi. 10.1177/0883073809341269

By:

Al-Hassnan, Zuhair N.;
Al Dhalaan, Hesham;
Patay, Zoltan;
Faqeih, Eissa;
Al-Owain, Mohammed;
Al-Duraihem, Adel;
Faiyaz-Ul-Haque, Mohammed

Publication type:

Article

Peroxisomal Dysfunction in Inflammatory Childhood White Matter Disorders: An Unexpected Contributor to Neuropathology.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 9, p. 1147, doi. 10.1177/0883073809338327

By:

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

Publication type:

Article

Krabbe Disease: Severe Neonatal Presentation With a Family History of Multiple Sclerosis.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 10, p. 826, doi. 10.1177/08830738050200100901

By:

Sahai, Inderneel;
Baris, Hagit;
Kimonis, Virginia;
Levy, Harvey L.

Publication type:

Article

Globoid Cell Leukodystrophy (Krabbe's Disease): Update.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 595, doi. 10.1177/08830738030180090201

By:

Suzuki, Kunihiko

Publication type:

Article

Leukodystrophies: Pathogenesis, Diagnosis, Strategies, Therapies, and Future Research Directions.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 578, doi. 10.1177/08830738030180090401

By:

Maria, Bernard L.;
Deidrick, Kathleen McCann;
Moser, Hugo;
Naidu, Sakkubai

Publication type:

Article

Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts: A Further Case of This New Entity.

Published in:

Journal of Child Neurology, 2002, v. 17, n. 10, p. 773

By:

Cioni, Giovanni

Publication type:

Article

Magnetic Resonance Spectroscopy and Magnetic Resonance Imaging Findings in Krabbe's Disease.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 7, p. 522, doi. 10.2310/7010.2001.17863

By:

Zarifi, Maria K.;
Tzika, A. Aria;
Astrakas, Loukas G.;
Poussaint, Tina Young;
Anthony, Douglas C.;
Darras, Basil T.

Publication type:

Article

Vacuolating Megalencephaic Leukoencephalopathy in 12 Israeli Patients.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 2, p. 93, doi. 10.1177/088307380101600205

By:

Ben-Zeev, Bruria;
Gross, Varda;
Kushnir, Tamar;
Shalev, Ruth;
Hoffman, Chen;
Shinar, Yael;
Pras, Eilo;
Brand, Nathan

Publication type:

Article

What Is Krabbe?

Published in:

Neonatal Network, 2017, v. 36, n. 2, p. 112, doi. 10.1891/0730-0832.36.2.112

By:

Rudd, Kathryn

Publication type:

Article

Selective Extraction and Effective Separation of Galactosylsphingosine (Psychosine) and Glucosylsphingosine from Other Glycosphingolipids in Pathological Tissue Samples.

Published in:

Neurochemical Research, 2011, v. 36, n. 9, p. 1612, doi. 10.1007/s11064-010-0348-3

By:

Li, Yu-Teh;
Li, Su-Chen;
Buck, Wayne;
Haskins, Mark;
Wu, Sz-Wei;
Khoo, Kay-Hooi;
Sidransky, Ellen;
Bunnell, Bruce

Publication type:

Article

Are Astrocytes the Missing Link Between Lack of Brain Aspartoacylase Activity and the Spongiform Leukodystrophy in Canavan Disease?

Published in:

Neurochemical Research, 2009, v. 34, n. 9, p. 1523, doi. 10.1007/s11064-009-9958-z

By:

Baslow, Morris H.;
Guilfoyle, David N.

Publication type:

Article

Effects of Irradiation on the Postnatal Development of the Brain in a Genetic Mouse Model of Globoid Cell Leukodystrophy.

Published in:

Neurochemical Research, 2007, v. 32, n. 2, p. 377, doi. 10.1007/s11064-006-9247-z

By:

Francesca Galbiati;
Giulia Clementi;
Daniela Superchi

Publication type:

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

'Leukodystrophy' Like Variant of a Treatable Demyelinating Disorder.

Published in:

2023

By:

Reddy, Chaithanya;
Vyas, Sameer;
Bhanudeep, Singanamalla;
Bhagwat, Chandana;
Madaan, Priyanka;
Saini, Lokesh;
Sankhyan, Naveen

Publication type:

Letter

Persisting Irritability with Fever Is Not Always Meningitis.

Published in:

Journal of Pediatric Neurosciences, 2022, v. 17, n. 3, p. 253, doi. 10.4103/jpn.jpn_283_20

By:

Fathima, Haseen;
Bhowmick, Rohit;
Kasinathan, Ananth Narayanan;
Bhat, B. Vishnu

Publication type:

Article

An unusual presentation of Menkes disease masquerading as a leukodystrophy with macrocephaly.

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 1, p. 57, doi. 10.4103/jpn.JPN_141_18

By:

Tayal, Anshula;
Elwadhi, Aman;
Sharma, Suvasini;
Patra, Bijoy

Publication type:

Article

Lissencephaly--pachygyria Masquerading as Leukodystrophy on Magnetic Resonance Imaging Brain.

Published in:

Journal of Pediatric Neurosciences, 2017, v. 12, n. 2, p. 154, doi. 10.4103/jpn.JPN_192_16

By:

Israni, Anil Vasudev;
Mandal, Anirban

Publication type:

Article

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.

Published in:

2015

By:

Zerkaoui, M.;
Ratbi, I.;
Castellotti, B.;
Gellera, C.;
Lyahyai, J.;
Kriouile, Y.;
Sefiani, A.

Publication type:

journal article

Infantile mitochondrial leucodystrophy -- a case report.

Published in:

Folia Neuropathologica, 2005, v. 43, n. 3, p. 186

By:

Schmidt-Sidor, Bogna;
Szymañska, Krystyna;
Lewandowska, Eliza;
Mierzewska, Hanna;
Wierzba-Bobrowicz, Teresa;
Pasennik, Elżbieta;
Stêpieñ, Tomasz

Publication type:

Article

Newborn children after PGD in an affected couple with X-linked adrenoleukodystrophy: case report.

Published in:

2008

By:

Y., Cabello;
M., Iglesias;
R., Domínguez;
P., Ceballos;
Enguídanos A., García;
C., Giménez;
A., Santaolaya

Publication type:

Case Study

The Ethics of Krabbe Newborn Screening.

Published in:

Public Health Ethics, 2013, v. 6, n. 1, p. 114, doi. 10.1093/phe/phs033

By:

Dees, Richard H.;
Kwon, Jennifer M.

Publication type:

Article

The Sad Story of Newborn Screening for Krabbe: The Need for Good Governance.

Published in:

Public Health Ethics, 2013, v. 6, n. 1, p. 123, doi. 10.1093/phe/pht008

By:

Miller, Fiona Alice

Publication type:

Article

Newborn Screening for Krabbe Disease: What Illinois Can Learn from New York.

Published in:

Public Health Ethics, 2013, v. 6, n. 1, p. 119, doi. 10.1093/phe/phs038

By:

Ross, Lainie Friedman

Publication type:

Article

Krabbe Newborn Screening: The Issue of Informed Consent.

Published in:

Public Health Ethics, 2013, v. 6, n. 1, p. 126, doi. 10.1093/phe/pht009

By:

Nijsingh, Niels

Publication type:

Article

A qualitative assessment of parental experiences with false‐positive newborn screening for Krabbe disease.

Published in:

Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 252, doi. 10.1002/jgc4.1480

By:

Peterson, Laiken;
Siemon, Amy;
Olewiler, Leah;
McBride, Kim L.;
Allain, Dawn C.

Publication type:

Article

Alexander Disease-Associated Glial Fibrillary Acidic Protein Mutations in Mice Induce Rosenthal Fiber Formation and a White Matter Stress Response.

Published in:

Journal of Neuroscience, 2006, v. 26, n. 43, p. 11162, doi. 10.1523/JNEUROSCI.3260-06.2006

By:

Hagemann, Tracy L.;
Connor, Jolien X.;
Messing, Albee

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

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

Psychosine-induced apoptosis and cytokine activation in immune peripheral cells of Krabbe patients.

Published in:

Journal of Cellular Physiology, 2007, v. 212, n. 3, p. 737, doi. 10.1002/jcp.21070

By:

Formichi, Patrizia;
Radi, Elena;
Battisti, Carla;
Pasqui, Annalaura;
Pompella, Gerarda;
Lazzerini, Pietro Enea;
Laghi-Pasini, Franco;
Leonini, Alessandra;
Di Stefano, Anna;
Federico, Antonio

Publication type:

Article

Gene therapy: Small RNAs aid cell transplants.

Published in:: Nature, 2010, v. 468, n. 7323, p. 479, doi. 10.1038/468479b
Publication type:: Article

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

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

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 novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.

Published in:

Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 620, doi. 10.1111/jns.12602

By:

Geroldi, Alessandro;
Tozza, Stefano;
Fiorillo, Chiara;
Nolano, Maria;
Fossa, Paola;
Vitale, Floriana;
Domi, Regi;
Gaudio, Andrea;
Mammi, Alessia;
Patrone, Serena;
Barbera, Andrea La;
Origone, Paola;
Ponti, Clarissa;
Sanguineri, Francesca;
Zara, Federico;
Cataldi, Matteo;
Salpietro, Vincenzo;
Venturi, Consuelo Barbara;
Massucco, Sara;
Schenone, Angelo

Publication type:

Article

Adult‐onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report.

Published in:

Journal of the Peripheral Nervous System, 2022, v. 27, n. 4, p. 320, doi. 10.1111/jns.12511

By:

Forbes, Emily;
Smith, Kaitlin;
Petluru, Monica;
Nystrom, Jered;
Fridman, Vera

Publication type:

Article

KARS‐related diseases with macrothrombocytes and pulmonary arterial hypertension.

Published in:

2023

By:

Wada, Mako Kimura;
Fukuhara, Yasuyuki;
Hayakawa, Itaru;
Kaname, Tadashi;
Ishiguro, Akira

Publication type:

Case Study

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

First hematopoietic stem cell transplantation in a child with late infantile Krabbe disease in Poland.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2021, v. 96, n. 1, p. 68, doi. 10.5114/POLP.2021.104831

By:

Miśkiewicz-Migoń, Izabella;
Miśkiewicz-Bujna, Justyna;
Mielcarek-Siedziuk, Monika;
Frączkiewicz, Jowita;
Gorczyńska, Ewa;
Kałwak, Krzysztof

Publication type:

Article