Research Output 1964 2017

2017

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 1 2017 In : JAMA Neurology. 74, 5, p. 519-524 6 p.

Research output: Research - peer-reviewArticle

Adrenoleukodystrophy
Superoxide Dismutase
Antioxidants
Heterozygote
Proteins

Neonatal detection of Aicardi Goutières Syndrome by increased C26: 0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Armangue, T. , Orsini, J. J. , Takanohashi, A. , Gavazzi, F. , Conant, A. , Ulrick, N. , Morrissey, M. A. , Nahhas, N. , Helman, G. , Gordish-Dressman, H. , Orcesi, S. , Tonduti, D. , Stutterd, C. , van Haren, K. , Toro, C. , Iglesias, A. D. , van der Knaap, M. S. , Goldbach Mansky, R. , Moser, A. B. , Jones, R. O. & 1 others Vanderver, A. 2017 (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Research - peer-reviewArticle

Lysophosphatidylcholines
Interferons
Newborn Infant
Aicardi-Goutieres syndrome
Screening

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

Wangler, M. F., Chao, Y. H., Bayat, V., Giagtzoglou, N., Shinde, A. B., Putluri, N., Coarfa, C., Donti, T., Graham, B. H., Faust, J. E., McNew, J. A., Moser, A., Sardiello, M., Baes, M. & Bellen, H. J. 2017 In : PLoS Genetics. 13, 6, e1006825

Research output: Research - peer-reviewArticle

carbohydrate metabolism
Drosophila
mice
genes
biogenesis

The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders

Law, K. B., Bronte-Tinkew, D., Di Pietro, E., Snowden, A., Jones, R. O., Moser, A., Brumell, J. H., Braverman, N. & Kim, P. K. May 4 2017 In : Autophagy. 13, 5, p. 868-884 17 p.

Research output: Research - peer-reviewArticle

Peroxisomes
Adenosine Triphosphatases
Peroxisome biogenesis disorders
Proteins
Mutation

Therapeutische Strategien bei Adrenoleukodystrophie

Turk, B. R., Moser, A. B. & Fatemi, A. May 10 2017 (Accepted/In press) In : Wiener Medizinische Wochenschrift. p. 1-8 8 p.

Research output: Research - peer-reviewArticle

Adrenoleukodystrophy
Therapeutics
Mutation
Genes
Spinal Cord Diseases
2016

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. 2016 (Accepted/In press) In : British Journal of Clinical Pharmacology.

Research output: Research - peer-reviewArticle

Adrenoleukodystrophy
Lorenzo's oil
erucic acid
Fatty Acids
Brain

Dataset for a case report of a homozygous PEX16 F332del mutation

Bacino, C., Chao, Y. H., Seto, E., Lotze, T., Xia, F., Jones, R. O., Moser, A. & Wangler, M. F. Mar 1 2016 In : Data in Brief. 6, p. 722-727 6 p.

Research output: Research - peer-reviewArticle

diagnostic

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Ventura, M. J., Wheaton, D., Xu, M., Birch, D., Bowne, S. J., Sullivan, L. S., Daiger, S. P., Whitney, A. E., Jones, R. O., Moser, A. B., Chen, R. & Wangler, M. F. Dec 1 2016 In : Molecular Genetics and Metabolism Reports. 9, p. 75-78 4 p.

Research output: Research - peer-reviewArticle

Peroxisomal Disorders
Phenotype
Retinitis Pigmentosa
Usher Syndromes
Sensorineural Hearing Loss

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G. & Bose, M. Mar 1 2016 In : Molecular Genetics and Metabolism. 117, 3, p. 313-321 9 p.

Research output: Research - peer-reviewArticle

Zellweger Syndrome
Guidelines
Therapeutics
Peroxisome biogenesis disorders
Newborn Infant
2015

Adenoassociated virus serotype 9-mediated gene therapy for X-linked adrenoleukodystrophy

Gong, Y., Mu, D., Prabhakar, S., Moser, A., Musolino, P., Ren, J., Breakefield, X. O., Maguire, C. A. & Eichler, F. S. May 9 2015 In : Molecular Therapy. 23, 5, p. 824-834 11 p.

Research output: Research - peer-reviewArticle

Adrenoleukodystrophy
Genetic Therapy
Viruses
Serogroup
Intravenous Injections

A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

Bacino, C. A., Chao, Y. H., Seto, E., Lotze, T., Xia, F., Jones, R. O., Moser, A. & Wangler, M. F. Dec 1 2015 In : Molecular Genetics and Metabolism Reports. 5, p. 15-18 4 p., 130

Research output: Research - peer-reviewArticle

Exome
Mutation
Peroxisomal Disorders
Fatty Acids
Phenotype

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

Ferdinandusse, S., Jimenez-Sanchez, G., Koster, J., Denis, S., Van Roermund, C. W., Silva-Zolezzi, I., Moser, A. B., Visser, W. F., Gulluoglu, M., Durmaz, O., Demirkol, M., Waterham, H. R., Gökcay, G., Wanders, R. J. A. & Valle, D. Jan 15 2015 In : Human Molecular Genetics. 24, 2, p. 361-370 10 p., ddu448

Research output: Research - peer-reviewArticle

Bile Acids and Salts
Peroxisomes
Liver Diseases
Fatty Acids
Phytanic Acid

Brain endothelial dysfunction in cerebral adrenoleukodystrophy

Musolino, P. L., Gong, Y., Snyder, J. M. T., Jimenez, S., Lok, J., Lo, E. H., Moser, A. B., Grabowski, E. F., Frosch, M. P. & Eichler, F. S. Nov 1 2015 In : Brain. 138, 11, p. 3206-3220 15 p.

Research output: Research - peer-reviewArticle

Adrenoleukodystrophy
Brain
Endothelial Cells
Tight Junction Proteins
Blood-Brain Barrier

Dietary influences on tissue concentrations of phytanic acid and AMACR expression in the benign human prostate

Kataria, Y., Wright, M., Deaton, R. J., Rueter, E. E., Rybicki, B. A., Moser, A. B., Ananthanrayanan, V. & Gann, P. H. Feb 1 2015 In : Prostate. 75, 2, p. 200-210 11 p.

Research output: Research - peer-reviewArticle

Phytanic Acid
Prostate
alpha-methylacyl-CoA racemase
Serum
Prostatic Neoplasms

Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens

Dorninger, F., Brodde, A., Braverman, N. E., Moser, A. B., Just, W. W., Forss-Petter, S., Brügger, B. & Berger, J. Feb 1 2015 In : Biochimica et Biophysica Acta - General Subjects. 1851, 2, p. 117-128 12 p.

Research output: Research - peer-reviewArticle

Plasmalogens
Phospholipids
Homeostasis
phosphatidylethanolamine
phosphatidal ethanolamines

Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities

Wang, X. M., Yik, W. Y., Zhang, P., Lu, W., Huang, N., Kim, B. R., Shibata, D., Zitting, M., Chow, R. H., Moser, A. B., Steinberg, S. J. & Hacia, J. G. Aug 29 2015 In : Stem Cell Research and Therapy. 6, 1, 158

Research output: Research - peer-reviewArticle

Zellweger Syndrome
Induced Pluripotent Stem Cells
Peroxisomes
Lipids
Stem cells

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D. & Tortorelli, S. Jan 1 2015 In : Molecular Genetics and Metabolism. 114, 1, p. 46-50 5 p.

Research output: Research - peer-reviewArticle

Lysophosphatidylcholines
Screening
Blood
Adrenoleukodystrophy
Newborn Infant
2014

Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease

Ribbens, J. J., Moser, A. B., Hubbard, W. C., Bongarzone, E. R. & Maegawa, G. H. B. 2014 In : Molecular Genetics and Metabolism. 111, 2, p. 172-183 12 p.

Research output: Research - peer-reviewArticle

Psychosine
Neurodegenerative diseases
Globoid Cell Leukodystrophy
Neurodegenerative Diseases
Glycosphingolipids

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

Wang, R. Y., Monuki, E. S., Powers, J., Schwartz, P. H., Watkins, P. A., Shi, Y., Moser, A., Shrier, D. A., Waterham, H. R., Nugent, D. J. & Abdenur, J. E. Sep 1 2014 In : Journal of Inherited Metabolic Disease. 37, 5, p. 791-799 9 p.

Research output: Research - peer-reviewArticle

Acyl-CoA Oxidase
Hematopoietic Stem Cell Transplantation
Siblings
Fatty Acids
White Matter

Fatty acids and TxA2 generation, in the absence of platelet-COX-1 activity

Defilippis, A. P., Rai, S. N., Cambon, A., Miles, R. J., Jaffe, A. S., Moser, A. B., Jones, R. O., Bolli, R. & Schulman, S. P. 2014 In : Nutrition, Metabolism and Cardiovascular Diseases. 24, 4, p. 428-433 6 p.

Research output: Research - peer-reviewArticle

Cyclooxygenase 1
Aspirin
Fatty Acids
Blood Platelets
Omega-3 Fatty Acids

Hif-2α Promotes degradation of mammalian peroxisomes by selective autophagy

Walter, K. M., Schönenberger, M. J., Trötzmüller, M., Horn, M., Elsässer, H. P., Moser, A. B., Lucas, M. S., Schwarz, T., Gerber, P. A., Faust, P. L., Moch, H., Köfeler, H. C., Krek, W. & Kovacs, W. J. Nov 4 2014 In : Cell Metabolism. 20, 5, p. 882-897 16 p.

Research output: Research - peer-reviewArticle

Peroxisomes
Autophagy
Oxygen
Peroxisomal Disorders
Lipid Metabolism

Human disorders of peroxisome biogenesis: Zellweger spectrum and rhizomelic chondrodysplasia punctata

Braverman, N., Argyriou, C. & Moser, A. Feb 1 2014 Molecular Machines Involved in Peroxisome Biogenesis and Maintenance. Springer-Verlag Wien, p. 63-90 28 p.

Research output: ResearchChapter

Rhizomelic Chondrodysplasia Punctata
Zellweger Syndrome
Peroxisomes
Peroxisome biogenesis disorders
Genes

Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy

Hoover-Fong, J., Sobreira, N., Jurgens, J., Modaff, P., Blout, C., Moser, A., Kim, O. H., Cho, T. J., Cho, S. Y., Kim, S. J., Jin, D. K., Kitoh, H., Park, W. Y., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D. & Pauli, R. M. Jan 2 2014 In : American Journal of Human Genetics. 94, 1, p. 105-112 8 p.

Research output: Research - peer-reviewArticle

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

Theda, C., Gibbons, K., DeFor, T. E., Donohue, P. K., Golden, W. C., Kline, A. D., Gulamali-Majid, F., Panny, S. R., Hubbard, W. C., Jones, R. O., Liu, A. K., Moser, A. B. & Raymond, G. V. 2014 In : Molecular Genetics and Metabolism. 111, p. 55-57 3 p.

Research output: Research - peer-reviewArticle

Lysophosphatidylcholines
Liquid chromatography
Mass spectrometry
Screening
Blood

Serum phytanic and pristanic acid levels and prostate cancer risk in Finnish smokers

Wright, M. E., Albanes, D., Moser, A. B., Weinstein, S. J., Snyder, K., Männistö, S. & Gann, P. H. Dec 1 2014 In : Cancer Medicine. 3, 6, p. 1562-1569 8 p.

Research output: Research - peer-reviewArticle

Phytanic Acid
Prostatic Neoplasms
Serum
pristanic acid
beta Carotene

The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder

Hiebler, S., Masuda, T., Hacia, J. G., Moser, A. B., Faust, P. L., Liu, A., Chowdhury, N., Huang, N., Lauer, A., Bennett, J., Watkins, P. A., Zack, D. J., Braverman, N. E., Raymond, G. V. & Steinberg, S. J. 2014 In : Molecular Genetics and Metabolism. 111, 4, p. 522-532 11 p.

Research output: Research - peer-reviewArticle

Zellweger Syndrome
Alleles
Liver
Therapeutics
Electrophysiology
2013

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

Gauthier, N., Wu, J. W., Wang, S. P., Allard, P., Mamer, O. A., Sweetman, L., Moser, A. B., Kratz, L., Alvarez, F., Robitaille, Y., Lépine, F. & Mitchell, G. A. Jul 5 2013 In : PLoS One. 8, 7, e60581

Research output: Research - peer-reviewArticle

acyl coenzyme A
hypoglycemia
liver
degradation
mice

Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome

Miyazaki, C., Saitoh, M., Itoh, M., Yamashita, S., Miyagishi, M., Takashima, S., Moser, A. B., Iwamori, M. & Mizuguchi, M. Sep 27 2013 In : Neuroscience Letters. 552, p. 71-75 5 p.

Research output: Research - peer-reviewArticle

Zellweger Syndrome
Glycolipids
Phospholipids
Fibroblasts
Liver

Chronic elevation of phosphocholine containing lipids in mice exposed to Gulf War agents pyridostigmine bromide and permethrin

Abdullah, L., Evans, J. E., Montague, H., Reed, J. M., Moser, A., Crynen, G., Gonzalez, A., Zakirova, Z., Ross, I., Mullan, C., Mullan, M., Ait-Ghezala, G. & Crawford, F. Nov 2013 In : Neurotoxicology and Teratology. 40, p. 74-84 11 p.

Research output: Research - peer-reviewArticle

Pyridostigmine Bromide
Permethrin
Phosphorylcholine
Lipids
Gulf War

Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells

Moser, A. B., Hey, J., Dranchak, P. K., Karaman, M. W., Zhao, J., Cox, L. A., Ryder, O. A. & Hacia, J. G. 2013 In : Lipids in Health and Disease. 12, 1, 10

Research output: Research - peer-reviewArticle

Phytanic Acid
Nutrition
Blood
Cells
Primates

Mff functions with Pex11pβ and DLP1 in peroxisomal fission

Itoyama, A., Michiyuki, S., Honsho, M., Yamamoto, T., Moser, A., Yoshida, Y. & Fujiki, Y. Oct 15 2013 In : Biology Open. 2, 10, p. 998-1006 9 p.

Research output: Research - peer-reviewArticle

Mitochondrial Dynamics
Dynamins
Proteins
proteins
dynamins

Red blood cell fatty acid analysis for determining compliance with omega3 supplements in dry eye disease trials

Gadaria-Rathod, N., Dentone, P. G., Peskin, E., Maguire, M. G., Moser, A. & Asbell, P. A. Nov 1 2013 In : Journal of Ocular Pharmacology and Therapeutics. 29, 9, p. 837-841 5 p.

Research output: Research - peer-reviewArticle

Eye Diseases
Fatty Acids
Erythrocytes
Placebos
Eicosapentaenoic Acid
2012

Bezafibrate for X-linked adrenoleukodystrophy

Engelen, M., Tran, L., Ofman, R., Brennecke, J., Moser, A. B., Dijkstra, I. M. E., Wanders, R. J. A., Poll-The, B. T. & Kemp, S. Jul 20 2012 In : PLoS One. 7, 7, e41013

Research output: Research - peer-reviewArticle

Bezafibrate
Adrenoleukodystrophy
very long chain fatty acids
Fatty Acids
Plasmas
Lysophosphatidylcholines
Carnitine
Choline
Screening
Blood

Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division

Itoyama, A., Honsho, M., Abe, Y., Moser, A., Yoshida, Y. & Fujiki, Y. Feb 1 2012 In : Journal of Cell Science. 125, 3, p. 589-602 14 p.

Research output: Research - peer-reviewArticle

Peroxisomes
Docosahexaenoic Acids
Fibroblasts
Dynamins
Morphogenesis

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

Itzkovitz, B., Jiralerspong, S., Nimmo, G., Loscalzo, M., Horovitz, D. D. G., Snowden, A., Moser, A., Steinberg, S. & Braverman, N. Jan 2012 In : Human Mutation. 33, 1, p. 189-197 9 p.

Research output: Research - peer-reviewArticle

Peroxisomes
Mutation
Proteins
Type 2 rhizomelic chondrodysplasia punctata
Type 3 Rhizomelic chondrodysplasia punctata

Functions of plasmalogen lipids in health and disease

Braverman, N. E. & Moser, A. B. Sep 2012 In : Biochimica et Biophysica Acta - Molecular Basis of Disease. 1822, 9, p. 1442-1452 11 p.

Research output: Research - peer-reviewArticle

Plasmalogens
Lipids
Health
Rhizomelic Chondrodysplasia Punctata
Peroxisomes
2011

Corrigendum to "Classical maple syrup urine disease and brain development: Principles of management and formula design" [Mol. Genet. Metab. 99 (2010) 333-345]

Strauss, K. A., Wardley, B., Robinson, D., Hendrickson, C., Rider, N. L., Puffenberger, E. G., Shellmer, D., Moser, A. B. & Morton, D. H. Jun 2011 In : Molecular Genetics and Metabolism. 103, 2, p. 202 1 p.

Research output: Research - peer-reviewArticle

Human and great ape red blood cells differ in plasmalogen levels and composition

Moser, A. B., Steinberg, S. J., Watkins, P. A., Moser, H. W., Ramaswamy, K., Siegmund, K. D., Lee, D. R., Ely, J. J., Ryder, O. A. & Hacia, J. G. 2011 In : Lipids in Health and Disease. 10, 101

Research output: Research - peer-reviewArticle

Plasmalogens
Blood
Cells
Chemical analysis
Hominidae

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx

Strauss, K. A., Brumbaugh, J., Duffy, A., Wardley, B., Robinson, D., Hendrickson, C., Tortorelli, S., Moser, A. B., Puffenberger, E. G., Rider, N. L. & Morton, D. H. Sep 2011 In : Molecular Genetics and Metabolism. 104, 1-2, p. 93-106 14 p.

Research output: Research - peer-reviewArticle

Lysine
Arginine
Safety
Amino Acids
Glutaric Acidemia I

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., Bibat, G., Hewson, S., Tam, K., Clarke, J. T. R., Charnas, L., Stetten, G., Karczeski, B., Cutting, G. & Steinberg, S. Sep 2011 In : Molecular Genetics and Metabolism. 104, 1-2, p. 160-166 7 p.

Research output: Research - peer-reviewArticle

Adrenoleukodystrophy
Mosaicism
Mutation
Fatty Acids
Genes
2010

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

Braverman, N., Zhang, R., Chen, L., Nimmo, G., Scheper, S., Tran, T., Chaudhury, R., Moser, A. & Steinberg, S. Apr 2010 In : Molecular Genetics and Metabolism. 99, 4, p. 408-416 9 p.

Research output: Research - peer-reviewArticle

Plasmalogens
Skeleton
Lenses
Defects
Phospholipid Ethers

Classical maple syrup urine disease and brain development: Principles of management and formula design

Strauss, K. A., Wardley, B., Robinson, D., Hendrickson, C., Rider, N. L., Puffenberger, E. G., Shelmer, D., Moser, A. B. & Morton, D. H. Apr 2010 In : Molecular Genetics and Metabolism. 99, 4, p. 333-345 13 p.

Research output: Research - peer-reviewArticle

Maple Syrup Urine Disease
Amino Acids
Brain
Selenium
Zinc

Docosahexaenoic acid therapy in peroxisomal diseases: Results of a double-blind, randomized trial

Paker, A. M., Sunness, J. S., Brereton, N. H., Speedie, L. J., Albanna, L., Dharmaraj, S., Moser, A. B., Jones, R. O. & Raymond, G. V. Aug 31 2010 In : Neurology. 75, 9, p. 826-830 5 p.

Research output: Research - peer-reviewArticle

Docosahexaenoic Acids
Therapeutics
Growth
Peroxisomes
Peroxisomal Disorders

Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions

Watkins, P. A., Moser, A. B., Toomer, C. B., Steinberg, S. J., Moser, H. W., Karaman, M. W., Ramaswamy, K., Siegmund, K. D., Lee, D. R., Ely, J. J., Ryder, O. A. & Hacia, J. G. 2010 In : BMC Physiology. 10, 1, 19

Research output: Research - peer-reviewArticle

Phytanic Acid
Hominidae
Transcriptome
Lipid Metabolism
Sex Characteristics

Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India

Phadke, S. R., Gupta, N., Girisha, K. M., Kabra, M., Maeda, M., Vidal, E., Moser, A., Steinberg, S., Puri, R. D., Verma, I. C. & Braverman, N. 2010 In : Journal of Applied Genetics. 51, 1, p. 107-110 4 p.

Research output: Research - peer-reviewArticle

India
Alleles
Mutation
Type 1 Rhizomelic chondrodysplasia punctata
Rhizomelic Chondrodysplasia Punctata

α-synuclein abnormalities in mouse models of peroxisome biogenesis disorders

Yakunin, E., Moser, A., Loeb, V., Saada, A., Faust, P., Crane, D. I., Baes, M. & Sharon, R. Mar 2010 In : Journal of Neuroscience Research. 88, 4, p. 866-876 11 p.

Research output: Research - peer-reviewArticle

alpha-Synuclein
Peroxisome biogenesis disorders
Peroxisomal Disorders
Parkinson Disease
Zellweger Syndrome
2009

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

Steinberg, S. J., Snowden, A., Braverman, N. E., Chen, L., Watkins, P. A., Clayton, P. T., Setchell, K. D. R., Heubi, J. E., Raymond, G. V., Moser, A. B. & Moser, H. W. 2009 In : Journal of Inherited Metabolic Disease. 32, 1, p. 109-119 11 p.

Research output: Research - peer-reviewArticle

Peroxisomes
Fibroblasts
Genes
Zellweger Syndrome
Bile Acids and Salts

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders

Wing, Y. Y., Steinberg, S. J., Moser, A. B., Moser, H. W. & Hacia, J. G. Mar 2009 In : Human Mutation. 30, 3

Research output: Research - peer-reviewArticle

Zellweger Syndrome
Mutation
Genes
Peroxisome biogenesis disorders
Peroxisomes

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method

Hubbard, W. C., Moser, A. B., Liu, A. C., Jones, R. O., Steinberg, S. J., Lorey, F., Panny, S. R., Vogt, R. F., Macaya, D., Turgeon, C. T., Tortorelli, S. & Raymond, G. V. Jul 2009 In : Molecular Genetics and Metabolism. 97, 3, p. 212-220 9 p.

Research output: Research - peer-reviewArticle

Liquid chromatography
Screening
Adrenoleukodystrophy
Liquid Chromatography
Oxidation