Works matching DE "ADRENOLEUKODYSTROPHY"

Results: 457

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00497-1

By:

Keefe, Alexandra C.;
Jensen, Dana M.;
Pham, Meranda M.;
Au, Natalie Y T;
Beckman, Erika;
Penon-Portmann, Monica;
Shelkowitz, Emily;
Bend, Renee;
Morrow, Michelle M.;
Kruszka, Paul;
Vats, Divya;
Russell, Bianca E.;
Chan, Erica;
Wong, Derek;
Rabani, Ahna;
O'Grady, Lauren;
Sahai, Inderneel;
Widmeyer, Kimberly;
Sperry, Ethan D.;
Hallinan, Barbara E.

Publication type:

Article

Adrenoleukodystrophy: Symptoms, Treatment and Newborn Screening. Literature Review and Clinical Case.

Published in:

Neurologijos Seminarai, 2024, v. 28, n. 1, p. 70, doi. 10.15388/NS.2024.28.99.1

By:

Regelskytė, Laura;
Praninskienė, Rūta

Publication type:

Article

Anesthesia management of a child with adrenoleukodystrophy.

Published in:

2006

By:

Hamdiye, Cultha T.;
Yawuz, Gurkan;
Kamil, Toker;
Mine, Solak

Publication type:

Letter

Adrenoleukodystrophy initially presenting with symptoms of dementia.

Published in:

Psychogeriatrics, 2007, v. 7, n. 4, p. 163, doi. 10.1111/j.1479-8301.2007.00195.x

By:

TAMAGAKI, Chiharu;
MURATA, Akira;
OHARA, Tokio;
SAKATA, Tetsuji;
TAKASE, Katsunori;
OKUGAWA, Gaku;
NOBUHARA, Kenji;
KINOSHITA, Toshihiko

Publication type:

Article

The motor domains of ABC-transporters.

Published in:

Naunyn-Schmiedeberg's Archives of Pharmacology, 2006, v. 372, n. 6, p. 385, doi. 10.1007/s00210-005-0031-4

By:

Oswald, Christine;
Holland, I.;
Schmitt, Lutz

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

Grand Rounds.

Published in:: 2010
Publication type:: Abstract

Single‐Gene Sequencing in Newborn Screening: Success, Challenge, Hope.

Published in:

Hastings Center Report, 2018, v. 48, p. S37, doi. 10.1002/hast.883

By:

Currier, Robert J.

Publication type:

Article

Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70052

By:

Al‐Hamed, Mohamed H.;
Qari, Alya;
Alrayes, Lamya;
Alotaibi, Mohammed;
Al Masseri, Zainab;
Alotaibi, Afaf;
AlAshwal, Abdullah;
AlHassnan, Zuhair N.;
Alsagheir, Afaf

Publication type:

Article

Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.

Published in:

2024

By:

Kang, Yulai;
Guo, Lu;
Min, Zhuo;
Zhang, Lei;
Zhang, Lili;
Tang, Chunhua

Publication type:

Case Study

Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophy.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1844

By:

Liu, Siwen;
Li, Lin;
Wu, Hairong;
Pei, Pei;
Zheng, Xuefei;
Pan, Hong;
Bao, Xinhua;
Qi, Yu;
Ma, Yinan

Publication type:

Article

Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1065

By:

Luo, Wen‐Jiao;
Wei, Qiao;
Dong, Hai‐Lin;
Yan, Yang‐Tian;
Chen, Mei‐Jiao;
Li, Hong‐Fu

Publication type:

Article

Gut microbiota in alcohol-related liver disease: pathophysiology and gut-brain cross talk.

Published in:

Frontiers in Pharmacology, 2023, v. 14, p. 01, doi. 10.3389/fphar.2023.1258062

By:

Lin Zhu;
Yixuan Wang;
Pan, Calvin Q.;
Huichun Xing

Publication type:

Article

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling.

Published in:

Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/3256539

By:

Richter Jr., John E.;
Vadlamudi, Charitha;
Macklin, Sarah K.;
Samreen, Ayesha;
Helmi, Haytham;
Broderick, Daniel;
Mohammad, Ahmed N.;
Hines, Stephanie L.;
VanGerpen, Jay A.;
Atwal, Paldeep S.;
Caulfield, Thomas R.

Publication type:

Article

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

Published in:

Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/6148425

By:

Dekker, M. C. J.;
Sadiq, A. M.;
Mc Larty, R.;
Mbwasi, R. M.;
Willemsen, M. A. A. P.;
Waterham, H. R.;
Hamel, B. C.

Publication type:

Article

Assignment[sup 1] of human fatty-acid-Coenzyme A ligase, very long-chain 1 gene (FACVL1) to human chromosome band 15q21.2 by fluorescence in situ hybridization.

Published in:

Cytogenetics & Cell Genetics, 1998, v. 81, n. 3/4, p. 292, doi. 10.1159/000015051

By:

Wakui, K.;
Aoyama, T.;
Uchiyama, A.;
Hashimoto, T.;
Fukushima, Y.

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

Saturday, October 21, 2017.

Published in:: 2017
Publication type:: Abstract

Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical Cases.

Published in:

2019

By:

Foschi, Matteo;
Vacchiano, Veria;
Avoni, Patrizia;
Incensi, Alex;
Battaglia, Stella;
Donadio, Vincenzo;
Panzeri, Elena;
Bassi, Maria Teresa;
Liguori, Rocco;
Rizzo, Giovanni

Publication type:

Case Study

X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES.

Published in:

Revista Paulista de Pediatria, 2019, v. 37, n. 4, p. 465, doi. 10.1590/1984-0462/;2019;37;4;00015

By:

Schumacher Furlan, Fernanda Luiza;
Andres Lemes, Macleise;
Fuverki Suguimatsu, Ligia Cecilia;
Furquim Pires, Carolina Teixeira;
Schmitz Ferreira Santos, Mara Lucia

Publication type:

Article

Adrenoleukodystrophy: New Approaches to a Neurodegenerative Disease.

Published in:

JAMA: Journal of the American Medical Association, 2005, v. 294, n. 24, p. 3131, doi. 10.1001/jama.294.24.3131

By:

Moser, Hugo W.;
Raymond, Gerald V.;
Dubey, Prachi

Publication type:

Article

Anesthetic management of an adult patient with childhood x-linked adrenoleukodystrophy.

Published in:

Anaesthesia, Pain & Intensive Care, 2019, v. 23, n. 1, p. 78

By:

Gupta, Jyoti;
Arora, Divesh

Publication type:

Article

Rare variability in adrenoleukodystrophy: a case report.

Published in:

2018

By:

Chen, Yanming;
Polara, Farhana;
Pillai, Anjana

Publication type:

journal 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

The subset of peroxisomal tail-anchored proteins do not reach peroxisomes via ER, instead mitochondria can be involved.

Published in:

PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0295047

By:

Somborac, Tamara;
Lutfullahoglu Bal, Güleycan;
Fatima, Kaneez;
Vihinen, Helena;
Paatero, Anja;
Jokitalo, Eija;
Paavilainen, Ville O.;
Konovalova, Svetlana

Publication type:

Article

Myelination Clock: a Simplified Step-by-step Approach to Normal Myelination.

Published in:

Hong Kong Journal of Radiology, 2016, v. 19, n. 3, p. 208, doi. 10.12809/hkjr1614286

By:

Prabhu, S. M.;
Yadav, V.;
Prakash, D.;
Sudhakar, S.;
Mani, S.

Publication type:

Article

Childhood Cerebral X-Linked Adrenoleukodystrophy More Than 5 Years After Hematopoietic Cell Transplantation: The First Case From Serbia and Southeastern Europe.

Published in:

2010

By:

Potic, Ana;
Rovelli, Attilio M.;
Uziel, Graziella;
Kozic, Dusko;
Mladenovic, Jelena;
Milic-Rasic, Vedrana

Publication type:

Case Study

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

Early Signs of Visual Perception and Evoked Potentials in Radiologically Asymptomatic Boys With X-linked Adrenoleukodystrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 8, p. 927, doi. 10.1177/0883073808331354

By:

Furushima, Wakana;
Inagaki, Masumi;
Gunji, Atsuko;
Inoue, Yuki;
Kaga, Makiko;
Mizutani, Shuki

Publication type:

Article

Three Novel Variants in X-linked Adrenoleukodystrophy.

Published in:

Journal of Child Neurology, 2009, v. 24, n. 7, p. 857, doi. 10.1177/0883073808330764

By:

Shukla, Pallavi;
Gupta, Neerja;
Kabra, Madhulika;
Ghosh, Manju;
Sharma, Raju;
Gupta, Arun K.;
Gulati, Sheffali;
Kalra, Veena

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

Inthrathecal IgA Synthesis in X-Linked Cerebral Adrenoleukodystrophy.

Published in:

Journal of Child Neurology, 1997, v. 12, n. 5, p. 314

By:

Korenke, G. Christoph;
Reiber, Hansotto;
Hunneman, Donald H.;
Hanefeld, Folker

Publication type:

Article

Immune response of BV-2 microglial cells is impacted by peroxisomal beta-oxidation.

Published in:

Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1299314

By:

Tawbeh, Ali;
Raas, Quentin;
Tahri-Joutey, Mounia;
Keime, Céline;
Kaiser, Romain;
Trompier, Doriane;
Nasser, Boubker;
Bellanger, Emma;
Dessard, Marie;
Hamon, Yannick;
Benani, Alexandre;
Di Cara, Francesca;
Cunha Alves, Tânia;
Berger, Johannes;
Weinhofer, Isabelle;
Mandard, Stéphane;
Cherkaoui-Malki, Mustapha;
Andreoletti, Pierre;
Gondcaille, Catherine;
Savary, Stéphane

Publication type:

Article

Peroxisomal defects in microglial cells induce a disease-associated microglial signature.

Published in:

Frontiers in Molecular Neuroscience, 2023, p. 1, doi. 10.3389/fnmol.2023.1170313

By:

Raas, Quentin;
Tawbeh, Ali;
Tahri-Joutey, Mounia;
Gondcaille, Catherine;
Keime, Céline;
Kaiser, Romain;
Trompier, Doriane;
Nasser, Boubker;
Leoni, Valerio;
Bellanger, Emma;
Boussand, Maud;
Hamon, Yannick;
Benani, Alexandre;
Di Cara, Francesca;
Truntzer, Caroline;
Cherkaoui-Malki, Mustapha;
Andreoletti, Pierre;
Savary, Stéphane

Publication type:

Article

The lived experience of Taiwanese mothers of a child diagnosed with adrenoleukodystrophy.

Published in:

2014

By:

Lee, Tsorng-Yeh;
Li, Chia-Chi;
Liaw, Jen-Jiuan

Publication type:

Journal Article

Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.

Published in:

Brain Pathology, 2018, v. 28, n. 6, p. 902, doi. 10.1111/bpa.12595

By:

Schlüter, Agatha;
Sandoval, Juan;
Fourcade, Stéphane;
Díaz‐Lagares, Angel;
Ruiz, Montserrat;
Casaccia, Patrizia;
Esteller, Manel;
Pujol, Aurora

Publication type:

Article

General Aspects and Neuropathology of X-Linked Adrenoleukodystrophy.

Published in:

Brain Pathology, 2010, v. 20, n. 4, p. 817, doi. 10.1111/j.1750-3639.2010.00390.x

By:

Ferrer, Isidro;
Aubourg, Patrick;
Pujol, Aurora

Publication type:

Article

Biochemical Aspects of X-Linked Adrenoleukodystrophy.

Published in:

Brain Pathology, 2010, v. 20, n. 4, p. 831, doi. 10.1111/j.1750-3639.2010.00391.x

By:

Kemp, Stephan;
Wanders, Ronald

Publication type:

Article

Current and Future Pharmacological Treatment Strategies in X-Linked Adrenoleukodystrophy.

Published in:

Brain Pathology, 2010, v. 20, n. 4, p. 845, doi. 10.1111/j.1750-3639.2010.00393.x

By:

Berger, Johannes;
Pujol, Aurora;
Aubourg, Patrick;
Forss-Petter, Sonja

Publication type:

Article

Hematopoietic Stem Cell Transplantation and Hematopoietic Stem Cell Gene Therapy in X-Linked Adrenoleukodystrophy.

Published in:

Brain Pathology, 2010, v. 20, n. 4, p. 857, doi. 10.1111/j.1750-3639.2010.00394.x

By:

Cartier, Nathalie;
Aubourg, Patrick

Publication type:

Article

Pathomechanisms Underlying X-Adrenoleukodystrophy: A Three-Hit Hypothesis.

Published in:

Brain Pathology, 2010, v. 20, n. 4, p. 838, doi. 10.1111/j.1750-3639.2010.00392.x

By:

Singh, Inderjit;
Pujol, Aurora

Publication type:

Article

A Novel Mouse Model for Cerebral Inflammatory Demyelination in X‐Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic Targets.

Published in:

Annals of Neurology, 2025, v. 97, n. 2, p. 296, doi. 10.1002/ana.27117

By:

Hashemi, Ezzat;
Srivastava, Isha N.;
Aguirre, Alejandro;
Yoseph, Ezra T.;
Kaushal, Esha;
Awani, Avni;
Ryu, Jae K.;
Akassoglou, Katerina;
Talebian, Shahrzad;
Chu, Pauline;
Pisani, Laura;
Musolino, Patricia;
Steinman, Lawrence;
Doyle, Kristian;
Robinson, William H.;
Sharpe, Orr;
Cayrol, Romain;
Orchard, Paul J.;
Lund, Troy;
Vogel, Hannes

Publication type:

Article

Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.

Published in:

Annals of Neurology, 2024, v. 95, n. 3, p. 442, doi. 10.1002/ana.26849

By:

Gong, Yi;
Laheji, Fiza;
Berenson, Anna;
Li, Yedda;
Moser, Ann;
Qian, April;
Frosch, Matthew;
Sadjadi, Reza;
Hahn, Ryan;
Maguire, Casey A.;
Eichler, Florian

Publication type:

Article

Cognitive Functions in Adult‐Onset Phenotypes of X‐Linked Adrenoleukodystrophy.

Published in:

Annals of Neurology, 2021, v. 90, n. 2, p. 266, doi. 10.1002/ana.26141

By:

Schäfer, Lisa;
Roicke, Hannes;
Fischer, Martin;
Sühnel, Annett;
Köhler, Wolfgang

Publication type:

Article

Dendrimer-N-acetyl-L-cysteine modulates monophagocytic response in adrenoleukodystrophy.

Published in:

2018

By:

Turk, Bela R.;
Nemeth, Christina L.;
Marx, Joel S.;
Tiffany, Carol;
Jones, Richard;
Theisen, Benjamin;
Kambhampati, Siva;
Ramireddy, Raj;
Singh, Sarabdeep;
Rosen, Melissa;
Kaufman, Miriam L.;
Murray, Connor F.;
Watkins, Paul A.;
Kannan, Sujatha;
Kannan, Rangaramanujam;
Fatemi, Ali

Publication type:

journal article

Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.

Published in:

2017

By:

Gong, Yi;
Sasidharan, Nikhil;
Laheji, Fiza;
Frosch, Matthew;
Musolino, Patricia;
Tanzi, Rudy;
Kim, Doo Yeon;
Biffi, Alessandra;
El Khoury, Joseph;
Eichler, Florian

Publication type:

journal article

Toddler With Frequent Falls and Neuroregression: Imaging Clues!

Published in:

Journal of Pediatric Neurosciences, 2020, v. 15, n. 3, p. 332, doi. 10.4103/jpn.JPN_6_20

By:

Sharawat, Indar K.;
Dawman, Lesa;
Panda, Prateek K.

Publication type:

Article

Non-multiple-sclerosis-related typical and atypical white matter disorders: Our experience in the last 2 years in both children and adults from a tertiary care center in India.

Published in:

Journal of Pediatric Neurosciences, 2019, v. 14, n. 1, p. 20, doi. 10.4103/JPN.JPN_37_19

By:

Chandra, Sadanandavalli;
Ramanujam, Chakravarthula;
Vyasaraj, Kishore;
Christopher, Rita;
Padmanabha, Hansashree;
Jagadish, Annapureddy;
Arshad, Faheem;
Gohel, Abhishek

Publication type:

Article

Childhood adrenoleukodystrophy -- Classic and variant -- Review of clinical manifestations and magnetic resonance imaging.

Published in:

Journal of Pediatric Neurosciences, 2013, v. 8, n. 3, p. 192, doi. 10.4103/1817-1745.123661

By:

Rai, P. V. Santosh;
Suresh, B. V.;
Bhat, I. G.;
Sekhar, Mithun;
Chakraborti, Shrijeet

Publication type:

Article

CHALLENGES IN GENETIC COUNSELLING ARISING FROM THE RISK OF MULTIPLE GENETIC CONDITIONS IN A SINGLE FAMILY.

Published in:

Ulster Medical Journal, 2009, v. 78, n. 1, p. 70

By:

Ward, Alana;
DeBaroid, Cliona;
Lynch, Sally-Ann

Publication type:

Article