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2019

Anesthetic management of pediatric patients diagnosed with X-linked adrenoleukodystrophy: A single-center experience

Kloesel, B., Dua, N., Eskuri, R., Hall, J., Cohen, M., Richtsfeld, M. & Belani, K., Jan 1 2019, (Accepted/In press) In : Paediatric anaesthesia.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Anesthetics
Anesthesia
Pediatrics
Adrenal Insufficiency
3 Citations (Scopus)

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy

Wiens, K., Berry, S. A., Choi, H., Gaviglio, A., Gupta, A., Hietala, A., Kenney-Jung, D., Lund, T., Miller, W., Pierpont, E. I., Raymond, G., Winslow, H., Zierhut, H. A. & Orchard, P. J., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1205-1213 9 p.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Newborn Infant
Adrenal Insufficiency
Lysophosphatidylcholines
Pedigree

Association between APOE4 and biomarkers in cerebral adrenoleukodystrophy

Orchard, P. J., Markowski, T. W., Higgins, L. A., Raymond, G. V., Nascene, D. R., Miller, W. P., Pierpont, E. I. & Lund, T. C., Dec 1 2019, In : Scientific reports. 9, 1, 7858.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Biomarkers
Nervous System
Nervous System Trauma
Gadolinium
Profilins
Adrenoleukodystrophy
Blood-Brain Barrier
Antibodies
Immune System Diseases
2 Citations (Scopus)

Late Mortality after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A Report from the Blood or Marrow Transplant Survivor Study-2 (BMTSS-2)

Wadhwa, A., Chen, Y., Holmqvist, A., Wu, J., Ness, E., Parman, M., Kung, M., Hageman, L., Francisco, L., Braunlin, E., Miller, W., Lund, T., Armenian, S., Arora, M., Orchard, P. & Bhatia, S., Feb 2019, In : Biology of Blood and Marrow Transplantation. 25, 2, p. 328-334 7 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Survivors
Transplantation
Bone Marrow
Transplants
Busulfan
Cyclophosphamide
Transplantation
Hematopoietic Stem Cell Transplantation
Transplants
2 Citations (Scopus)
Open Access
Adrenoleukodystrophy
Transplants
Blood-Brain Barrier
Repair
Tissue Donors
6 Citations (Scopus)

Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation

Raymond, G. V., Aubourg, P., Paker, A., Escolar, M., Fischer, A., Blanche, S., Baruchel, A., Dalle, J. H., Michel, G., Prasad, V., Miller, W. P., Paadre, S., Balser, J., Kurtzberg, J., Nascene, D. R., Orchard, P. J. & Lund, T. C., Mar 2019, In : Biology of Blood and Marrow Transplantation. 25, 3, p. 538-548 11 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Hematopoietic Stem Cell Transplantation
Survival
Graft vs Host Disease
Confidence Intervals
2018
4 Citations (Scopus)

Adrenoleukodystrophy: Guidance for adrenal surveillance in males identified by newborn screen

Regelmann, M. O., Kamboj, M. K., Nakamoto, J. M., Miller, B. S., Shah, S., Sarafoglou, K. M. & Marino, R., Jan 1 2018, In : Journal of Clinical Endocrinology and Metabolism. 103, 11, p. 4324-4331 8 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Pediatrics
Adrenal Insufficiency
Newborn Infant
Screening
7 Citations (Scopus)
Open Access
Adrenoleukodystrophy
Blood-Brain Barrier
Endothelial Cells
Brain
Ethylene Oxide
1 Citation (Scopus)
Open Access
Adrenoleukodystrophy
Hematopoietic Stem Cell Transplantation
Transplants
Survivors
Visual Perception
2 Citations (Scopus)

Quality of life among boys with adrenoleukodystrophy following hematopoietic stem cell transplant

Beckmann, N. B., Miller, W. P., Dietrich, M. S. & Orchard, P. J., Oct 3 2018, In : Child Neuropsychology. 24, 7, p. 986-998 13 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Hematopoietic Stem Cells
Quality of Life
Transplants
Proxy
2017
15 Citations (Scopus)
Fetal Blood
Transplantation
Alleles
Transplants
Survival
8 Citations (Scopus)

Antioxidant capacity and superoxide dismutase activity in adrenoleukodystrophy

Turk, B. R., Theisen, B. E., Nemeth, C. L., Marx, J. S., Shi, X., Rosen, M., Jones, R. O., Moser, A. B., Watkins, P. A., Raymond, G. V., Tiffany, C. & Fatemi, A., May 2017, In : JAMA Neurology. 74, 5, p. 519-524 6 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Superoxide Dismutase
Antioxidants
Heterozygote
Proteins
117 Citations (Scopus)

Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy

Eichler, F., Duncan, C., Musolino, P. L., Orchard, P. J., De Oliveira, S., Thrasher, A. J., Armant, M., Dansereau, C., Lund, T. C., Miller, W. P., Raymond, G. V., Sankar, R., Shah, A. J., Sevin, C., Gaspar, H. B., Gissen, P., Amartino, H., Bratkovic, D., Smith, N. J. C., Paker, A. M. & 5 others, Shamir, E., O’Meara, T., Davidson, D., Aubourg, P. & Williams, D. A., Oct 26 2017, In : New England Journal of Medicine. 377, 17, p. 1630-1638 9 p.

Research output: Contribution to journalArticle

Open Access
Adrenoleukodystrophy
Cell- and Tissue-Based Therapy
Hematopoietic Stem Cells
Genetic Therapy
Nervous System
17 Citations (Scopus)
Open Access
Adrenoleukodystrophy
Hematopoietic Stem Cells
Transplants
Magnetic Resonance Imaging
Nervous System
1 Citation (Scopus)
Open Access
Cell Transplantation
Prospective Studies
Transplants
Adrenoleukodystrophy
Busulfan
2016
5 Citations (Scopus)
Orphan Drug Production
Adrenoleukodystrophy
Pharmacodynamics
Bayes Theorem
Pharmacokinetics
4 Citations (Scopus)

A model-based approach to assess the exposure-response relationship of Lorenzo's oil in adrenoleukodystrophy

Ahmed, M. A., Kartha, R. V., Brundage, R. C., Cloyd, J., Basu, C., Carlin, B. P., Jones, R. O., Moser, A. B., Fatemi, A. & Raymond, G. V., Jun 1 2016, In : British Journal of Clinical Pharmacology. 81, 6, p. 1058-1066 9 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Erucic Acids
Fatty Acids
Peroxisomal Disorders
Brain
2 Citations (Scopus)

Childhood cerebral adrenoleukodystrophy: MR perfusion measurements and their use in predicting clinical outcome after hematopoietic stem cell transplantation

McKinney, A. M., Benson, J., Nascene, D. R., Eisengart, J., Salmela, M. B., Loes, D. J., Zhang, L., Patel, K., Raymond, G. V. & Miller, W. P., Sep 2016, In : American Journal of Neuroradiology. 37, 9, p. 1713-1720 8 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Hematopoietic Stem Cell Transplantation
Corpus Callosum
Perfusion
Nervous System
11 Citations (Scopus)
Adrenoleukodystrophy
Gadolinium
Nervous System
Transplantation
Biomarkers
2015

Management of Red Teeth in an International Patient with X-Linked Adrenoleukodystrophy

Petrova, E., Miller, W. P., Myers, S. L. & Karp, J. M., Nov 1 2015, In : Pediatric dentistry. 37, 7, p. 550-553 4 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Hematopoietic Stem Cell Transplantation
Tooth
Central Nervous System Diseases
Nervous System
3 Citations (Scopus)

Mechanisms of Antioxidant Induction with High-Dose N-Acetylcysteine in Childhood Cerebral Adrenoleukodystrophy

Kartha, R., Zhou, J., Basso, L. M., Schroeder, H., Orchard, P. J. & Cloyd, J. C., Dec 1 2015, In : CNS Drugs. 29, 12, p. 1041-1047 7 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Heme Oxygenase-1
Acetylcysteine
Antioxidants
Cell Transplantation
36 Citations (Scopus)

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

Vogel, B. H., Bradley, S. E., Adams, D. J., D'Aco, K., Erbe, R. W., Fong, C., Iglesias, A., Kronn, D., Levy, P., Morrissey, M., Orsini, J., Parton, P., Pellegrino, J., Saavedra-Matiz, C. A., Shur, N., Wasserstein, M., Raymond, G. V. & Caggana, M., Apr 1 2015, In : Molecular Genetics and Metabolism. 114, 4, p. 599-603 5 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Clinical Protocols
Screening
Guidelines
Acyl-CoA Oxidase
2014
15 Citations (Scopus)
Inborn Errors Metabolism
Neuroimaging
Leukoencephalopathies
Sialic Acid Storage Disease
MERRF Syndrome