X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects
Kemp, Stephan, Berger, Johannes, Aubourg, Patrick·2012·Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
Cited by (283)
Items 101–200 of 283
- Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-l-cysteine, Trolox, and RosuvastatinDesirèe Padilha Marchetti, Luiza Steffens Reinhardt, Carlos Eduardo Diaz Jacques, Gilian Guerreiro, Caroline Paula Mescka, Marion Deon, Daniella de Moura Coelho, Dinara Jaqueline Moura, Alice G. Viario, Fernanda S. Poletto et al. · 2018 · Cellular and Molecular Neurobiology
- Dosage Compensation in Females with X-Linked Metabolic DisordersPatrycja Juchniewicz, Ewa Piotrowska, Anna Kłoska, Magdalena Podlacha, Jagoda Mantej, Grzegorz Węgrzyn, Stefan Tukaj, Joanna Jakóbkiewicz‐Banecka · 2021 · International Journal of Molecular Sciences
- Clinical and Neuroimaging Spectrum of Peroxisomal DisordersAi Peng Tan, Fabrício Guimarães Gonçalves, Abeer Almehdar, Bruno Passebon Soares · 2018 · Topics in Magnetic Resonance Imaging
- X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and TherapiesBela Rui Turk, Christiane Theda, Ali S. Fatemi, Ann B. Moser · 2019 · International Journal of Developmental Neuroscience
- Peroxisomes attenuate cytotoxicity of very long-chain fatty acidsHanif Ali, Miyu Kobayashi, Katsuya Morito, Rumana Yesmin Hasi, Mutsumi Aihara, Junji Hayashi, Ryushi Kawakami, Koichiro Tsuchiya, Kazunori Sango, Tamotsu Tanaka · 2022 · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
- Rare diseases in clinical endocrinology: a taxonomic classification systemGemma Marcucci, Luisella Cianferotti, P. Beck‐Peccoz, Marco Capezzone, Filomena Cetani, Annamaria Colao, Maria Vittoria Davì, Ettore C. degli Uberti, Stefano Del Prato, Rossella Elisei et al. · 2014 · Journal of Endocrinological Investigation
- X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean PatientsCyntia Anabel Amorosi, Helena Myšková, Mariela Roxana Monti, Carlos E. Argaraña, Masashi Morita, Stephan Kemp, Raquel Dodelson de Kremer, Lenka Dvořáková, Ana María Oller Ramírez · 2012 · PLoS ONE
- Isolated Cerebellar Variant of Adrenoleukodystrophy with ade novoAdenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene MutationJoon Won Kang, Sang Mi Lee, Kyo Yeon Koo, Young‐Mock Lee, Hyo Suk Nam, Zhejiu Quan, Hoon‐Chul Kang · 2014 · Yonsei Medical Journal
- A model‐based approach to assess the exposure–response relationship of Lorenzo's oil in adrenoleukodystrophyMariam Ahuoiza AHMED, Reena V. Kartha, Richard C. Brundage, James C. Cloyd, Cynthia Basu, Bradley P. Carlin, Richard O. Jones, Ann B. Moser, Ali S. Fatemi, Gerald V. Raymond · 2016 · British Journal of Clinical Pharmacology
- Leukodystrophy: Basic and ClinicalGerald V. Raymond · 2017 · Advances in neurobiology
- Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programmeAlice Bessey, James B. Chilcott, Joanna Leaviss, Anthea Sutton · 2018 · Orphanet Journal of Rare Diseases
- Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptomsDenise Z. Salazar, Karen M. Kloke, Rubén Bonilla Guerrero, Carlos R. Ferreira, Nenad Blau · 2023 · Molecular Genetics and Metabolism
- Loss of AMP‐Activated Protein Kinase Induces Mitochondrial Dysfunction and Proinflammatory Response in Unstimulated Abcd1‐Knockout Mice Mixed Glial CellsJaspreet Singh, Hamid Suhail, Shailendra Giri · 2015 · Mediators of Inflammation
- Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophyShanshan Chu, Jun Ye, Huiwen Zhang, Lian-Shu Han, Wenjuan Qiu, Xiaolan Gao, Xuefan Gu · 2015 · World Journal of Pediatrics
- Pathophysiology of X-Linked Adrenoleukodystrophy: Updates on Molecular MechanismsParasar, Parveen, Kaur, Navtej, Singh, Jaspreet · 2024 · Journal of Biotechnology and Biomedicine
- Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and AdrenomyeloneuropathyAlexandra B. Kornbluh, Aaron Baldwin, Ali S. Fatemi, Adeline L. Vanderver, Laura Ann Adang, Keith P. van Haren, Jacinda B. Sampson, Florian Eichler, Reza Sadjadi, Marc Engelen et al. · 2024 · Neurology Genetics
- Intracerebral lentiviral ABCD1 gene therapy in an early disease onset ALD mouse modelJie Gong, Yunyun Liu, Tsai‐Hua Chung, Liu Xu, Troy C. Lund, Lung‐Ji Chang · 2022 · Gene Therapy
- Group 3: Strategies for identifying the cause of adrenal insufficiency: diagnostic algorithmsEmmanuelle Proust-Lemoine, Rachel Reynaud, Brigitte Delemer, Antoine Tabarin, Dinane Samara‐Boustani · 2017 · Annales d Endocrinologie
- Effect of Delayed Diagnosis of Phenylketonuria With Imaging Findings of Bilateral Diffuse Symmetric White Matter Lesions: A Case Report and Literature ReviewShuna Chen, Mingqin Zhu, Yulei Hao, Jiachun Feng, Ying Zhang · 2019 · Frontiers in Neurology
- Hematopoietic stem cell transplantation in leukodystrophiesCaroline Sevin, Fanny Mochel · 2024 · Handbook of clinical neurology
- Progressive Brain Disorders in ChildhoodJuan M. Pascual · 2017 · Cambridge University Press eBooks
- Characterization of uptake and metabolism of very long-chain fatty acids in peroxisome-deficient CHO cellsHanif Ali, Katsuya Morito, Rumana Yesmin Hasi, Mutsumi Aihara, Junji Hayashi, Ryushi Kawakami, Kaori Kanemaru, Koichiro Tsuchiya, Kazunori Sango, Tamotsu Tanaka · 2021 · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
- A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findingsGeorgios Koutsis, David S. Lynch, Arianna Tucci, Henry Houlden, Georgia Karadima, Μάριος Πάνας · 2015 · Journal of the Neurological Sciences
- Broadening the Spectrum of Adulthood X-Linked Adrenoleukodystrophy: A Report of Two Atypical CasesMatteo Foschi, Veria Vacchiano, Patrizia Avoni, Alex Incensi, Stella Battaglia, Vincenzo Angelo Donadio, Elena Panzeri, Maria Teresa Bassi, Rocco Liguori, Giovanni Rizzo · 2019 · Frontiers in Neurology
- Generation of an immortalized astrocytic cell line from Abcd1-deficient H-2KbtsA58 mice to facilitate the study of the role of astrocytes in X-linked adrenoleukodystrophyMasashi Morita, Ai Toida, Yuki Horiuchi, Shiro Watanabe, Masakiyo Sasahara, Kosuke Kawaguchi, Takanori So, Tsuneo Imanaka · 2021 · Heliyon
- Long-Term Disease Prevention with a Gene Therapy Targeting Oligodendrocytes in a Mouse Model of AdrenomyeloneuropathyÖzgür-Günes, Yasemin, Chedik, Malha, Le Stunff, Catherine, Fovet, Claire-Maëlle, Bougnères, Pierre · 2022 · Human Gene Therapy
- Flow injection ionization-tandem mass spectrometry-based estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophyArchana Natarajan, Rita Christopher, Manjunath Netravathi, Maya Dattatraya Bhat, Sadanandavalli Retnaswami Chandra · 2019 · Clinica Chimica Acta
- Ataxia with giant axonopathy in
<i>Acbd5</i>
-deficient mice halted by adeno-associated virus gene therapyGranadeiro, Luis, Zarralanga, Violeta Enríquez, Rosa, Ricardo, Franquinho, Filipa, Lamas, Sofia, Brites, Pedro · 2024 · Brain
- A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese populationChengfang Tang, Fang Tang, Yanna Cai, Minyi Tan, Sichi Liu, Ting Xie, Xiang Jiang, Yonglan Huang · 2023 · Clinica Chimica Acta
- A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case reportAdnane Karkar, Abdelhamid Barakat, Amina Bakhchane, Houda Fettah, Ilham Slassi, Imen Dorboz, Odile Boespflug‐Tanguy, Sellama Nadifi · 2015 · BMC Neurology
- Evaluation of Retinoids for Induction of the Redundant Gene ABCD2 as an Alternative Treatment Option in X-Linked AdrenoleukodystrophyWeber, Franziska D., Weinhofer, Isabelle, Einwich, Angelika, Forss-Petter, Sonja, Muneer, Zahid, Maier, Harald, Weber, Willi H. A., Berger, Johannes · 2014 · PLoS ONE
- Protective effect of oleic acid against very long-chain fatty acid-induced apoptosis in peroxisome-deficient CHO cellsHanif Ali, Mone Yamanishi, Keigo Sunagawa, Mizuki Kumon, Rumana Yesmin Hasi, Mutsumi Aihara, Ryushi Kawakami, Tamotsu Tanaka · 2024 · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids
- In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse modelRamu Gopalappa, MinYoung Lee, Globinna Kim, Eul Sik Jung, Hanahrae Lee, Hye-Yeon Hwang, Jong Geol Lee, Su Jung Kim, Hyun Ju Yoo, Young Hoon Sung et al. · 2024 · Molecular Therapy
- A Novel Mouse Model for Cerebral Inflammatory Demyelination in X‐Linked Adrenoleukodystrophy: Insights into Pathogenesis and Potential Therapeutic TargetsEzzat Hashemi, Isha N. Srivastava, Alejandro Aguirre, Ezra Yoseph, Esha Kaushal, Avni Awani, Jae Kyu Ryu, Katerina Akassoglou, Shahrzad Talebian, Pauline Chu et al. · 2024 · Annals of Neurology
- Clinical characteristics and phenotype distribution in 10 Chinese patients with X‑linked adrenoleukodystrophyMing‐Rui Jia, Wen‐Zhen Wu, Chuanming Li, Xiao‐Hui Cai, Lin Zhang, Yan Fang, Chan Zhu, Minghong Gu · 2019 · Experimental and Therapeutic Medicine
- A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female CarriersRosa Campopiano, Cinzia Femiano, Maria Antonietta Chiaravalloti, Rosangela Ferese, Diego Centonze, Fabio Buttari, Stefania Zampatti, Mirco Fanelli, Stefano Amatori, Carmelo D'Alessio et al. · 2021 · Genes
- Beneficial Effects of the Direct AMP-Kinase Activator PXL770 in In Vitro and In Vivo Models of X-Linked AdrenoleukodystrophyPierre‐Axel Monternier, Parveen Parasar, Pierre Theurey, Pascale Gluais Dagorn, Navtej Kaur, Tavarekere N. Nagaraja, Pascale Fouqueray, Sébastien Bolze, David E. Moller, Jaspreet Singh et al. · 2022 · Journal of Pharmacology and Experimental Therapeutics
- Genetic origin of patients having spastic paraplegia with or without other neurologic manifestationsJiannan Chen, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Xuan Guo, Jing Hu · 2022 · BMC Neurology
- A novel classification system for research reporting in rare and progressive genetic conditionsClara van Karnebeek, Daniël Beumer, Colleen Pawliuk, Helly Goez, Sara Mostafavi, Gail Andrews, Rose Steele, Harold B. Siden · 2019 · Developmental Medicine & Child Neurology
- Genetic analysis and prenatal diagnosis of 76 Chinese families with X‐linked adrenoleukodystrophySiwen Liu, Lin Li, Hairong Wu, Pei Pei, Xuefei Zheng, Hong Pan, Xinhua Bao, Yu Qi, Yinan Ma · 2021 · Molecular Genetics & Genomic Medicine
- Lipids and Lipid Signaling in Drosophila Models of Neurodegenerative DiseasesKyoung Sang Cho, Se Min Bang, Amanda Toh · 2014 · Elsevier eBooks
- Synthetic cannabinoids revealing adrenoleukodystrophyAvi Fellner, Felix Benninger, Ruth Djaldetti · 2015 · Journal of Clinical Neuroscience
- Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with AdrenomyeloneuropathyJie Li, Hongfen Wang, Zizi He, Xiangqing Wang, Jing Ping Tang, Dehui Huang · 2019 · BMC Neurology
- Lipid Biomarkers for the Peroxisomal and Lysosomal Disorders: Their Formation, Metabolism and MeasurementRyuichi Mashima, Masamitsu Maekawa · 2017 · Biomarkers in Medicine
- ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: case seriesAngelika Mohn, Nella Polidori, Chiara Aiello, Cristiano Rizzo, Cosimo Giannini, Francesco Chiarelli, Marco Cappa · 2021 · Endocrinology Diabetes and Metabolism Case Reports
- Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances–a recent reviewChakresh Kumar Jain, Sarita Maurya, Pankaj Kumar Tripathi · 2025 · Brain and Development
- An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPsVasireddy, Vidyullatha, Maguire, Casey A., Anderson, David W., Ng, Carrie, Gong, Yi, Eichler, Florian, Fourcade, Stéphane, Guilera, Cristina, Onieva, Andrea, Sanchez, Angela et al. · 2024 · Molecular Therapy - Methods & Clinical Development
- Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory PerspectiveJulia Prinzi, Marzia Pasquali, Judith A. Hobert, Rachel N. Palmquist, Kristen N. Wong, Stephanie Francis, Irene De Biase · 2023 · International Journal of Neonatal Screening
- Neurodegenerative diseasesAram Kim, Alexis L. Franks · 2024 · Elsevier eBooks
- Adrenoleukodystrophy and the mitochondrial connection: clues for supplementing Lorenzo’s oilCarlos Torres Moraes · 2013 · Brain
- Involvement of the Carboxyl-Terminal Region of the Yeast Peroxisomal Half ABC Transporter Pxa2p in Its Interaction with Pxa1p and in Transporter FunctionCheng Yi Chuang, Ling Yun Chen, Ru‐Huei Fu, Shih Ming Chen, Ming-Hua Ho, Jie Mau Huang, Chia‐Chi Hsu, Chien Cheng Wang, Meng Shian Chen, Rong-Tzong Tsai · 2014 · PLoS ONE
- Exogenous Addition of 25‐Hydroxycholesterol Reduces Level of Very Long‐Chain Fatty Acids in X‐Linked AdrenoleukodystrophyJang, Jiho, Lee, Jung Wuk, Song, Jiho, Kim, Dong‐Wook, Min, Kyung Hoon · 2019 · ChemistryOpen
- X‐Linked Adrenoleukodystrophy Mimicking Hereditary Spastic ParaplegiaVinícius Boaratti Ciarlariello, Júlian Letícia de Freitas, José Luiz Pedroso, Orlando Graziani Póvoas Barsottini · 2019 · Movement Disorders Clinical Practice
- Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutationMamta N. Muranjan, Sunil Karande, Shilpa Sankhe, Svea Eichler · 2018 · Journal of Postgraduate Medicine
- X-Linked AdrenoleukodystrophyAn-Guor Wang · 2018 · Springer eBooks
- iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network PerturbationsAmelie Sophia Lotz-Havla, Mathias Woidy, Philipp Guder, Caroline C. Friedel, Julian M. Klingbeil, Ana‐Maria Bulau, Anja Schultze, Ilona Dahmen, Heidi Noll‐Puchta, Stephan Kemp et al. · 2021 · Journal of Proteome Research
- Typical and atypical phenotype and neuroimaging of X-linked adrenoleukodystrophy in a Chinese cohortChenhui Mao, Jie Li, Xinying Huang, Jie Wang, Shanshan Chu, Yao Zhang, Liling Dong, Caiyan Liu, Lin Lü, Ling Qiu et al. · 2022 · Neurological Sciences
- A case of adrenoleukodystrophy presenting with manic symptoms in a patient on steroids for Addison's diseaseCyriac George, KS Jyothi, KS Shaji · 2016 · Indian Journal of Psychiatry
- Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophyTeresa Płatek, Evelyn Orsó, Barbara Zapała, Anna Polus, Beata Kieć‐Wilk, Monika Weronika Piwowar, Monika Chojnacka, Urszula Ciałowicz, Małgorzata Malczewska-Malec, Gerd Schmitz et al. · 2018 · Medicine
- Rapid liquid chromatography-tandem mass spectrometry to determine very-long-chain fatty acids in human and to establish reference intervals for the Chinese populationDanchen Wang, Songlin Yu, Yuanyuan Zhang, Yicong Yin, Qian Cheng, Shaowei Xie, Jialei Yu, Honglei Li, Xinqi Cheng, Ling Qiu · 2019 · Clinica Chimica Acta
- Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 GeneKun‐Long Hung, Jinn-Shyan Wang, Wee Teik Keng, Hui-Ju Chen, Jao‐Shwann Liang, Lock Hock Ngu, Jyh‐Feng Lu · 2013 · Pediatric Neurology
- S149R, a novel mutation in theABCD1gene causing X-linked adrenoleukodystrophyFang Yan, Wenbo Wang, Hui Ying, Hongyu Li, Jing Chen, Chao Xu · 2017 · Oncotarget
- Amelioration of Phytanic Acid–Induced Neurotoxicity by Nutraceuticals: Mechanistic InsightsNeha Neha, Shaista Chaudhary, Prachi Tiwari, Suhel Parvez · 2024 · Molecular Neurobiology
- Inherited leukoencephalopathies with clinical onset in middle and old ageSerena Nannucci, Ida Donnini, Leonardo Pantoni · 2014 · Journal of the Neurological Sciences
- Specific suppression of microgliosis cannot circumvent the severe neuropathology in peroxisomal β-oxidation-deficient miceLien Beckers, Stijn Stroobants, Simon Verheijden, Brian L. West, Rudi D’Hooge, Myriam I Baes · 2017 · Molecular and Cellular Neuroscience
- Developmental and Degenerative Cerebellar Pathologies in Peroxisomal β-Oxidation DeficiencyStephanie De Munter, Myriam I Baes · 2020 · Advances in experimental medicine and biology
- Peroxisomes in intracellular cholesterol transport: from basic physiology to brain pathologyJian Xiao, Bao‐Liang Song, Jie Luo · 2021 · Exploration of Neuroprotective Therapy
- Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophyKatsuya Morito, Ryota Shimizu, Hanif Ali, Akina Shimada, Tohru Miyazaki, Naoko Takahashi, M Motiur Rahman, Kazuki Tsuji, Nobuyuki Shimozawa, Michiyasu Nakao et al. · 2023 · The Journal of Medical Investigation
- A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case reportMengqi Zhang, Shupeng Shi, Haoran Zhang, Lihui Liu, Linchao Wu, Bo Xiao, Weiping Liu · 2018 · Neurological Sciences
- Maladies peroxysomalesLeonardo M. Astudillo, Frédérique Sabourdy, Guy Touati, Thierry Levade · 2016 · La Presse Médicale
- Rare variability in adrenoleukodystrophy: a case reportYanming Chen, Farhana K. Polara, Anjana Pillai · 2018 · Journal of Medical Case Reports
- Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort studyJoshua L. Bonkowsky, Bridget E. Healey, Naomi C. Sacks, Ronaé McLin, Philip L. Cyr, Eileen K. Sawyer, Christopher D. Stephen, Florian Eichler · 2024 · Orphanet Journal of Rare Diseases
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanismsAlexandra Chapleau, Stefanie Perrier, Thomas M. Durcan, Geneviève Bernard · 2025 · npj Genomic Medicine
- Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophyBabak Emamalizadeh, Yousef Daneshmandpour, Abbas Tafakhori, Sakineh Ranji‐Burachaloo, Sajad Shafiee, Elahe Ghods, Hossein Darvish · 2019 · Journal of Pediatric Endocrinology and Metabolism
- Initial frontal lobe involvement in adult cerebral X-linked adrenoleukodystrophyWei Jie Jiang, Wei Jin, Hulin Zhao, Dehui Huang, Lei Wu · 2023 · Acta Neurologica Belgica
- Thermogenic flux induced by lignoceric acid in peroxisomes isolated from HepG2 cells and from X‐adrenoleukodystrophy and control fibroblastsA. Petroni, Rita Clara Paroni, Anna Maria Aloisi, Milena Blasevich, Nabil Haman, Dimitrios Fessas · 2019 · Journal of Cellular Physiology
- A 29-year-old patient with adrenoleukodystrophy presenting with Addison’s diseaseHajime Tanaka, Naoko Amano, Kumiko Tanaka, Takeshi Katsuki, Tomohide Adachi, Nobuyuki Shimozawa, Toshihide Kawai · 2020 · Endocrine Journal
- Translational and clinical pharmacology considerations in drug repurposing for X‐linked adrenoleukodystrophy—A rare peroxisomal disorderJulianne Tieu, Siddhee A. Sahasrabudhe, Paul J. Orchard, James C. Cloyd, Reena V. Kartha · 2021 · British Journal of Clinical Pharmacology
- Leukodystrophies and Lysosomal Storage DisordersMaria Luisa Escolar, Mieke Aldenhoven · 2013 · Stem cell biology and regenerative medicine
- Prenatal diagnosis of X‐linked adrenoleukodystrophy associated with isolated pericardial effusionGiovanna Traficante, Roberto Biagiotti, Elena Andreucci, Mariarosaria Di Tommaso, Aldesia Provenzano, Ettore Cariati, Sabrina Giglio · 2015 · Clinical Case Reports
- Primary Adrenal Insufficiency (PAI): A Major Teaching Hospital Experience, Riyadh, Saudi ArabiaAl-Jurayyan NA · 2015 · International Journal of Clinical Therapeutics and Diagnosis
- The Role of a Fatty Acid Chain Elongase, Elovl1, in Zebrafish and Its Implications for Kidney Disease in HumansSushil Bhandari, Seong‐Kyu Choe · 2018 · Elsevier eBooks
- Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion ModeTarek A. Teber, Brian J. Conti, Christopher A. Haynes, Amy D. Hietala, Mei Wang Baker · 2022 · International Journal of Neonatal Screening
- Peroxisomal Pathways, their Role in Neurodegenerative Disorders and Therapeutic StrategiesPatrizia Risé, Rita Clara Paroni, A. Petroni · 2014 · Elsevier eBooks
- Adrenal Insufficiency: Etiology and DiagnosisNicolas C. Nicolaides, Evangelia Charmandari · 2018 · Elsevier eBooks
- Novel mutations in the ABCD1 gene caused adrenomyeloneuropathy in the Chinese populationRaoli He, Jian Zhang, Tianwen Huang, Guoen Cai, Zhang‐Yu Zou, Qinyong Ye · 2023 · Frontiers in Neurology
- A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case reportJinxin Liu, Xin Wang, Di Huang, Yuna Qi, Lei Xu, Yankun Shao · 2024 · Medicine
- Living with adrenoleukodystrophy: adult patient and caregiver perspectivesAmena Smith Fine, Kathleen O’ Sullivan-Fortin, Kelly Miettunen, Felicity J. Emerson, Reza Sadjadi, Ali S. Fatemi, Florian Eichler · 2026 · Orphanet Journal of Rare Diseases
- Molecular insights into sphingomyelin membrane alterations induced by very long-chain lysophospholipidsMaría Isabel Cabrera-González, Yolanda de Diego‐Otero, Raquel Yahyaoui, Laura R. Arriaga, Juan Luis Aragones, Pablo Burriel Llombart · 2026 · Journal of Colloid and Interface Science
- Guillain Barré Syndrome in a Child With X-Linked AdrenoleukodystrophyRon Jacob, Hanna Mandel, Naim Shehadeh · 2015 · Child Neurology Open
- A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophyJing Wang, Qian Zhu, Hongqian Liu · 2018 · Medicine
- X-linked adrenoleukodystrophy caused by a novel mutation presenting with various phenotypes in a Taiwanese familyChia-Yin Chien, Kuo‐Hsuan Chang, Chiung‐Mei Chen · 2021 · Clinica Chimica Acta
- Metabolomics used in clinical diagnosis related to newborn screeningMahbuba Rahman, Mamatha Ramaswamy · 2023 · Elsevier eBooks
- Generation of induced pluripotent stem line (MIPTi001-A) derived from patient with X-linked adrenoleukodystrophy (X-ALD)Ekaterina A. Gornostal, Almaqdad Alsalloum, Olga N. Mityaeva, Pavel Volchkov · 2023 · Stem Cell Research
- Plant Peroxisomal ABC Transporters: Flexible and UnusualFrederica L. Theodoulou, Stephen A. Baldwin, Jocelyn M. Baldwin, Alison Baker · 2014 · Signaling and communication in plants
- A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophyYan-na Cai, Minyan Jiang, Cuili Liang, Min-zhi Peng, Jing Cheng, Huiying Sheng, Li-Ping Fan, Xi-qing Chen, Li Liu · 2014 · Journal of Pediatric Endocrinology and Metabolism
- Extensive Asymmetric Pattern in Cerebral X-Linked AdrenoleukodystrophyJuliana Silva de Almeida Magalhães, Ellen de Souza Siqueira, Marcelo Rodrigues Masruha · 2015 · Pediatric Neurology
- Neuroimaging of Pediatric Metabolic Disorders with Emphasis on Diffusion-Weighted Imaging and MR Spectroscopy: A Pictorial EssayKofi‐Buaku Atsina, Lauren W. Averill, Vinay V. R. Kandula · 2017 · Current Radiology Reports
- Développement d’un programme multidisciplinaire de diagnostic de l’adrénoleucodystrophie liée à l’X au Maroc: résultats de la mise en œuvre du programme de diagnostic clinique et biologiqueF. Benjelloun, Layachi Chabraoui, Yamna Kriouile · 2017 · Pan African Medical Journal
- Therapeutic Strategies for X-Linked Adrenoleukodystrophy, a Representative Peroxisomal DisorderMasashi Morita · 2019 · Springer eBooks