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Results for

""ATP Binding Cassette Transporter, Subfamily D, Member 1""[mesh_terms]

9 Results

Searching titles within these results

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

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

Molecular genetics & genomic medicine 2024;12(7):e2499

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Structure and Function of the Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.

Stephan Kemp, Marc Engelen, Kerry Gao, Eric J Mallack

Cells 2022;11(2):

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Effects of combined nutritional interventions on the natural history of X-linked adrenoleukodystrophy in female carriers.

Davide Ferrari, Maria Rita Spreghini, Graziamaria Ubertini, Enrico Silvio Bertini, Chiara Aiello, Maurizio Petrarca, Antonio Petrucci, Cristiano Rizzo, Andrea M Isidori, Marco Cappa

Journal of neuroendocrinology 2026;38(9):e70270

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Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.

Vinod K Prasad, Jörn-Sven Kühl, Christine N Duncan, Bartosz Grzywacz, Florian S Eichler, David A Williams, Paul J Orchard, Gerald F Downey, Geoffrey Parsons, Nicole Floro, Marianna Foos, Melissa A Kinney, Sarah Slauson, Marian H Harris, Amy Beckman, Jacob R Bledsoe, Ashish O Gupta, Ankit Lodaya, Himal L Thakar, Francis J Pierciey, Melissa Bonner, Andrew C Dietz, Richard A Colvin

The New England journal of medicine 2024;391(14):1287-1301

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ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.

Masashi Morita, Kosuke Kawaguchi

BioMed research international 2017;2016():6786245

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Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.

Hernan Amartino, Gerald F Downey, Juliana Folloni Fernandes, Satiro De Oliveira, Ashish O Gupta, Troy C Lund, Himal L Thakar, Raman Sankar, Paul Gissen, Andrew C Dietz, Adrian J Thrasher, Elizabeth McNeil, Paul J Orchard, Daniel J Loes, Caroline Sevin, Jörn-Sven Kühl, Christine N Duncan, Jean-Hugues Dalle, Shaun A Hussain, Uwe Platzbecker, Patrick Aubourg, Laura Demopoulos, David A Williams, Patricia L Musolino, Nicholas Smith, Florian Eichler

The New England journal of medicine 2024;391(14):1302-1312

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Improving the understanding of human genetic diseases through predictions of protein structures and protein-protein interaction sites.

Huan-Xiang Zhou

Current medicinal chemistry 2004;11(5):539-49

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Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review.

Shoji Tsuji, Ichiro Yabe, Takashi Matsukawa, Masaaki Matsushima, Yuka Shibata, Hiroyuki Ishiura

Journal of human genetics 2021;66(5):535-537

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Clinical consequences of defects in peroxisomal beta-oxidation.

P T Clayton

Biochemical Society transactions 2001;29(Pt 2):298-305

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Results for ""ATP Binding Cassette Transporter, Subfamily D, Member 1""[mesh_terms]

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

Structure and Function of the Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.

Effects of combined nutritional interventions on the natural history of X-linked adrenoleukodystrophy in female carriers.

Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.

ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.

Improving the understanding of human genetic diseases through predictions of protein structures and protein-protein interaction sites.

Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review.

Clinical consequences of defects in peroxisomal beta-oxidation.

Results for

""ATP Binding Cassette Transporter, Subfamily D, Member 1""[mesh_terms]