Works matching DE "ADRENOLEUKODYSTROPHY"

Results: 458

Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy.

Published in:

Genes, 2025, v. 16, n. 5, p. 590, doi. 10.3390/genes16050590

By:

Bougnères, Pierre;
Le Stunff, Catherine

Publication type:

Article

Spectrum of Clinical and Imaging Characteristics of 48 X-Linked Adrenoleukodystrophy Patients: Our Experience from a University Hospital.

Published in:

Neurology India, 2022, v. 70, n. 4, p. 1554, doi. 10.4103/0028-3886.355099

By:

Bhat, Maya;
Natarajan, Archana;
Chandra, S. R.;
Christropher, Rita;
Netravathi M.;
Netravathi, M

Publication type:

Article

Adrenoleukodystrophy: The Importance of Early MRI Findings and Serial Imaging.

Published in:

2019

By:

Jain, Neeraj;
Phadke, Rajendra;
Phadke, Shubha;
Dwivedi, Aradhana;
Phadke, Rajendra Vishnu

Publication type:

Case Study

Whole exome sequencing reveals ABCD1 variant as a potential contributor to male infertility.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10234-7

By:

Redouane, Salaheddine;
Harmak, Houda;
El Hamouchi, Adil;
Charoute, Hicham;
Louanjli, Noureddine;
Malki, Abderrahim;
Barakat, Abdelhamid;
Rouba, Hassan

Publication type:

Article

Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 4, p. 73, doi. 10.3390/ijns10040073

By:

Videbæk, Cecilie S.;
Grønborg, Sabine W.;
Lund, Allan M.;
Olesen, Mette L.

Publication type:

Article

Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 51, doi. 10.3390/ijns9030051

By:

Yska, Hemmo A. F.;
Henneman, Lidewij;
Barendsen, Rinse W.;
Engelen, Marc;
Kemp, Stephan

Publication type:

Article

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 20, doi. 10.3390/ijns9020020

By:

Singh, Sikha;
Ojodu, Jelili;
Kemper, Alex R.;
Lam, Wendy K. K.;
Grosse, Scott D.

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

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 29, doi. 10.3390/ijns8020029

By:

Baker, Craig V.;
Cady Keller, Alyssa;
Lutz, Richard;
Eveans, Karen;
Baumert, Krystal;
DiPerna, James C.;
Rizzo, William B.

Publication type:

Article

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 2, p. 27, doi. 10.3390/ijns8020027

By:

Teber, Tarek A.;
Conti, Brian J.;
Haynes, Christopher A.;
Hietala, Amy;
Baker, Mei W.

Publication type:

Article

Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 18, doi. 10.3390/ijns8010018

By:

Kachwala, Isha;
Regelmann, Molly O.

Publication type:

Article

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.

Published in:

International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 1, p. 6, doi. 10.3390/ijns8010006

By:

Burton, Barbara K.;
Hickey, Rachel;
Hitchins, Lauren;
Shively, Vera;
Ehrhardt, Joan;
Ashbaugh, Laura;
Peng, Yin;
Basheeruddin, Khaja

Publication type:

Article

Structures of the human peroxisomal fatty acid transporter ABCD1 in a lipid environment.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-021-02970-w

By:

Le, Le Thi My;
Thompson, James Robert;
Dang, Phuoc Xuan;
Bhandari, Janarjan;
Alam, Amer

Publication type:

Article

Primary Adrenal Insufficiency in a Boy with Type I Diabetes: The Importance of Considering X-linked Adrenoleukodystrophy.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac039

By:

Wiersma, Rebecca E;
Gupta, Ashish O;
Lund, Troy C;
Sarafoglou, Kyriakie;
Pierpont, Elizabeth I;
Orchard, Paul J;
Miller, Bradley S

Publication type:

Article

Correction to "Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy".

Published in:: 2023
Publication type:: Correction Notice

Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 7, p. 1230, doi. 10.1002/acn3.51818

By:

Kakumoto, Toshiyuki;
Matsukawa, Takashi;
Ishiura, Hiroyuki;
Mori, Harushi;
Tsuji, Shoji;
Toda, Tatsushi

Publication type:

Article

Optical coherence tomography to measure the progression of myelopathy in adrenoleukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1064, doi. 10.1002/acn3.51349

By:

Ballegoij, Wouter J. C.;
Huffnagel, Irene C.;
Stadt, Stephanie I. W.;
Weinstein, Henry C.;
Bennebroek, Carlien A. M.;
Engelen, Marc;
Verbraak, Frank D.

Publication type:

Article

Targeting foam cell formation in inflammatory brain diseases by the histone modifier MS‐275.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2161, doi. 10.1002/acn3.51200

By:

Zierfuss, Bettina;
Weinhofer, Isabelle;
Buda, Agnieszka;
Popitsch, Niko;
Hess, Lena;
Moos, Verena;
Hametner, Simon;
Kemp, Stephan;
Köhler, Wolfgang;
Forss‐Petter, Sonja;
Seiser, Christian;
Berger, Johannes

Publication type:

Article

Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 639, doi. 10.1002/acn3.51015

By:

Zierfuss, Bettina;
Weinhofer, Isabelle;
Kühl, Jörn‐Sven;
Köhler, Wolfgang;
Bley, Annette;
Zauner, Katharina;
Binder, Johannes;
Martinović, Ksenija;
Seiser, Christian;
Hertzberg, Christoph;
Kemp, Stephan;
Egger, Gerda;
Leitner, Gerda;
Bauer, Jan;
Wiesinger, Christoph;
Kunze, Markus;
Forss‐Petter, Sonja;
Berger, Johannes

Publication type:

Article

Post‐transplant adaptive function in childhood cerebral adrenoleukodystrophy.

Published in:

Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 252, doi. 10.1002/acn3.526

By:

Pierpont, Elizabeth I.;
McCoy, Erin;
King, Kelly E.;
Ziegler, Rich S.;
Shanley, Ryan;
Nascene, David;
Raymond, Gerald V.;
Phelan, Rachel;
Lund, Troy C.;
Orchard, Paul J.;
Miller, Weston P.

Publication type:

Article

Clinical phenotype and genetic characteristics of five patients with adrenomyeloneuropathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2022, v. 22, n. 4, p. 306, doi. 10.3969/j.issn.1672-6731.2022.04.013

By:

LIU Xiao-li;
ZHANG Bin;
ZHAN Fei-xia;
CAO Li

Publication type:

Article

Biopsy findings of symptomatic cerebral X-linked adrenoleucodystrophy and histological differentiation from multiple sclerosis.

Published in:

Neuropathology & Applied Neurobiology, 2014, v. 40, n. 5, p. 658, doi. 10.1111/nan.12089

By:

Pfeifenbring, Sabine;
Baumgarten, Louisa;
Schüller, Ulrich;
Rosewich, Hendrik;
Thal, Dietmar Rudolf;
Wirtz, Christian Rainer;
Hecht, Martin;
Terpolilli, Nicole Angela;
Brück, Wolfgang

Publication type:

Article

Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female.

Published in:

Case Reports in Neurological Medicine, 2013, p. 1, doi. 10.1155/2013/491790

By:

Skuladottir Jack, Gyda Hlin;
Malm-Willadsen, Karolina;
Frederiksen, Anja;
Glintborg, Dorte;
Andersen, Marianne

Publication type:

Article

No evidence for the reversal of adrenal failure after hematopoietic cell transplantation in X-linked adrenoleukodystrophy.

Published in:

Bone Marrow Transplantation, 2012, v. 47, n. 10, p. 1377, doi. 10.1038/bmt.2012.33

By:

Petryk, A;
Polgreen, L E;
Chahla, S;
Miller, W;
Orchard, P J

Publication type:

Article

N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy.

Published in:

Bone Marrow Transplantation, 2007, v. 39, n. 4, p. 211, doi. 10.1038/sj.bmt.1705571

By:

Tolar, J.;
Orchard, P. J.;
Bjoraker, K. J.;
Ziegler, R. S.;
Shapiro, E. G.;
Charnas, L.

Publication type:

Article

Early diagnosis of cerebral X-linked adrenoleukodystrophy in boys with Addison's disease improves survival and neurological outcomes.

Published in:

2011

By:

Polgreen, Lynda;
Chahla, Saydi;
Miller, Weston;
Rothman, Steven;
Tolar, Jakub;
Kivisto, Teresa;
Nascene, David;
Orchard, Paul;
Petryk, Anna;
Polgreen, Lynda E;
Orchard, Paul J

Publication type:

journal article

Haematopoietic stem cell transplantation in 12 patients with cerebral X-linked adrenoleukodystrophy.

Published in:

European Journal of Pediatrics, 2003, v. 162, n. 1, p. 6, doi. 10.1007/s00431-002-1097-3

By:

Baumann, Matthias;
Korenke, Christoph G.;
Weddige-Diedrichs, Almuth;
Wilichowski, Ekkehard;
Hunneman, Donald H.;
Wilken, Bernd;
Brockmann, Knut;
Klingebiel, Thomas;
Niethammer, Dietrich;
Kühl, Jörn;
Ebell, Wolfram;
Hanefeld, Folker

Publication type:

Article

Organelle disease: peroxisomal disorders.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S236, doi. 10.1007/PL00014410

By:

Gärtner, Jutta

Publication type:

Article

Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese population.

Published in:

Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1126729

By:

Raoli He;
Jian Zhang;
Tianwen Huang;
Guoen Cai;
Zhangyu Zou;
Qinyong Ye

Publication type:

Article

Brain Lipotoxicity of Phytanic Acid and Very Long-chain Fatty Acids. Harmful Cellular/Mitochondrial Activities in Refsum Disease and X-Linked Adrenoleukodystrophy.

Published in:

Aging & Disease, 2016, v. 7, n. 2, p. 136, doi. 10.14336/AD.2015.0823

By:

Schönfeld, Peter;
Reiser, Georg

Publication type:

Article

Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.

Published in:

Genes, 2024, v. 15, n. 7, p. 838, doi. 10.3390/genes15070838

By:

Mares Beltran, Carlos F.;
Tise, Christina G.;
Barrick, Rebekah;
Niehaus, Annie D.;
Sponberg, Rebecca;
Chang, Richard;
Enns, Gregory M.;
Abdenur, Jose E.

Publication type:

Article

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

Published in:

Genes, 2021, v. 12, n. 12, p. 1930, doi. 10.3390/genes12121930

By:

van de Stadt, Stephanie I. W.;
Mooyer, Petra A. W.;
Dijkstra, Inge M. E.;
Dekker, Conny J. M.;
Vats, Divya;
Vera, Moin;
Ruzhnikov, Maura R. Z.;
van Haren, Keith;
Tang, Nelson;
Koop, Klaas;
Willemsen, Michel A.;
Hui, Joannie;
Vaz, Frédéric M.;
Ebberink, Merel S.;
Engelen, Marc;
Kemp, Stephan;
Ferdinandusse, Sacha

Publication type:

Article

A Large Family with p.Arg554His Mutation in ABCD1 : Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Published in:

Genes, 2021, v. 12, n. 5, p. 775, doi. 10.3390/genes12050775

By:

Campopiano, Rosa;
Femiano, Cinzia;
Chiaravalloti, Maria Antonietta;
Ferese, Rosangela;
Centonze, Diego;
Buttari, Fabio;
Zampatti, Stefania;
Fanelli, Mirco;
Amatori, Stefano;
D'Alessio, Carmelo;
Giardina, Emiliano;
Fornai, Francesco;
Biagioni, Francesca;
Storto, Marianna;
Gambardella, Stefano;
Via, Marc

Publication type:

Article

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

Published in:

Genes, 2021, v. 12, n. 5, p. 695, doi. 10.3390/genes12050695

By:

Good, Jean-Marc;
Atallah, Isis;
Castro Jimenez, Mayte;
Benninger, David;
Kuntzer, Thierry;
Superti-Furga, Andrea;
Tran, Christel;
Schrauwen, Isabelle

Publication type:

Article

Nutritional Counseling and Mediterranean Diet in Adrenoleukodystrophy: A Real-Life Experience.

Published in:

Nutrients, 2024, v. 16, n. 19, p. 3341, doi. 10.3390/nu16193341

By:

Spreghini, Maria Rita;
Gianni, Nicoletta;
Todisco, Tommaso;
Rizzo, Cristiano;
Cappa, Marco;
Manco, Melania

Publication type:

Article

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.

Published in:

Application of Clinical Genetics, 2015, v. 8, p. 109, doi. 10.2147/TACG.S49590

By:

Wiesinger, Christoph;
Eichler, Florian S.;
Berger, Johannes

Publication type:

Article

Exon organisation of the mouse gene encoding the Adrenoleukodystrophy related protein (ALDRP).

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 6, p. 638, doi. 10.1038/sj.ejhg.5200233

By:

Broccardo, Cyril;
Troffer-Charlier, Nathalie;
Savary, Stephane;
Mandel, Jean Louis;
Chimini, Giovanna

Publication type:

Article

Hereditary Disorders Mimicking Progressive Multiple Sclerosis.

Published in:

2019

By:

KARAASLAN, Zerrin

Publication type:

Editorial

Supratentorial MRG Bulguları Serebral Adrenolökodistrofiye Benzeyen ADEM Olgusu.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2014, v. 51, n. 1, p. 86, doi. 10.4274/npa.y6886

By:

BEYAZAL, Mehmet;
ÜNAL, Özkan;
YILMAZ, Sanem;
BORA, Aydın

Publication type:

Article

Çocukluk Çağı Serebral Tip Adrenolökodistrofi'de Tanı ve Ayırıcı Tanı Zorlukları: Bir Olgu Sunumu.

Published in:

Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2011, v. 48, n. 4, p. 261, doi. 10.4274/npa.y5797

By:

YILDIZ, Özlem;
MEMİK, Nursu ÇAKIN;
KARA, Bülent;
ARDIÇ, Hasan;
AĞAOĞLU, Belma

Publication type:

Article

Haematopoietic stem-cell transplant for adult cerebral adrenoleukodystrophy.

Published in:

2008

By:

Fitzpatrick, A. S.;
Loughrey, C. M.;
Johnston, P.;
McKee, S.;
Spence, W.;
Flynn, P.;
Jones, F. G. C.;
Morrow, J. I.

Publication type:

Letter

Anton-Babinski syndrome in a child with early-stage adrenoleukodystrophy.

Published in:

2007

By:

Trifiletti, R. R.;
Syed, E. H.;
Hayes-Rosen, C.;
Parano, E.;
Pavone, P.

Publication type:

Letter

X-linked adrenoleukodystrophy with olivopontocerebellar atrophy.

Published in:

European Journal of Neurology, 2005, v. 12, n. 11, p. 912, doi. 10.1111/j.1468-1331.2005.01134.x

By:

Vianello, M.;
Manara, R.;
Betterle, C.;
Tavolato, B.;
Mariniello, B.;
Giometto, B.

Publication type:

Article

Long-term effect of bone marrow transplantation in adult-onset adrenoleukodystrophy.

Published in:

European Journal of Neurology, 2005, v. 12, n. 10, p. 807, doi. 10.1111/j.1468-1331.2005.01055.x

By:

Hitomi, T.;
Mezaki, T.;
Tomimoto, H.;
Ikeda, A.;
Shimohama, S.;
Okazaki, T.;
Uchiyama, T.;
Shibasaki, H.

Publication type:

Article

Adult-Cerebral X-linked Adrenoleukodystrophy: A Mirage of Psychosis, Mania, and Substance Use.

Published in:

Psychiatric Annals, 2020, v. 50, n. 9, p. 417, doi. 10.3928/00485713-20200812-01

By:

Makkar, Hina;
Corona, Celine C.;
Wadhawan, Abhishek;
Stiller, John W.

Publication type:

Article

Oxidative Stress in Patients with X-Linked Adrenoleukodystrophy.

Published in:

Cellular & Molecular Neurobiology, 2016, v. 36, n. 4, p. 497, doi. 10.1007/s10571-015-0234-2

By:

Deon, Marion;
Marchetti, Desirèe;
Donida, Bruna;
Wajner, Moacir;
Vargas, Carmen

Publication type:

Article

Hematopoietic Stem Cell Transplantation for Neurological Disorders: A Focus on Inborn Errors of Metabolism.

Published in:

Frontiers in Cellular Neuroscience, 2022, p. 1, doi. 10.3389/fncel.2022.895511

By:

de Vasconcelos, Pedro;
Lacerda, João F.

Publication type:

Article

X-linked adrenoleukodystrophy diagnosed in three brothers.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2019, v. 25, n. 2, p. 95, doi. 10.5114/pedm.2019.85821

By:

Hetman, Marta;
Jura, Maksym;
Krakowska, Kornelia;
Barg, Ewa

Publication type:

Article

Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI.

Published in:

2019

By:

Buermans, Noortje J. M. L.;
van den Bosch, Sharon J. G.;
Huffnagel, Irene C.;
Steenweg, Marjan E.;
Engelen, Marc;
Oostrom, Kim J.;
Geurtsen, Gert J.

Publication type:

journal article

Disease progression in women with X-linked adrenoleukodystrophy is slow.

Published in:

2019

By:

Huffnagel, Irene C.;
Dijkgraaf, Marcel G. W.;
Janssens, Georges E.;
van Weeghel, Michel;
van Geel, Björn M.;
Poll-The, Bwee Tien;
Kemp, Stephan;
Engelen, Marc

Publication type:

journal article