A. Moser

A. Moser, A. Fatemi, C. Theda, 2019, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata.

H. Moser, A. Moser, W. Rizzo, 1993, Biochemical medicine and metabolic biology.

Brain endothelial dysfunction in cerebral adrenoleukodystrophy.

A. Moser, F. Eichler, M. Frosch, 2015, Brain : a journal of neurology.

Cytokine network during NASH and possible treatment selection

A. Moser, G. Tarantino, P. Watkins, 2003 .

Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening.

H. Moser, A. Moser, G. Raymond, 2005, The Journal of pediatrics.

A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.

A. Moser, P. Watkins, S. Mihalik, 2003, Human molecular genetics.

Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.

H. Moser, A. Moser, C. Zeiss, 2002, American journal of human genetics.

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

H. Moser, A. Moser, J. Hacia, 2009, Human mutation.

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

A. Moser, J. Hacia, Mazen W. Karaman, 2013, Lipids in Health and Disease.

Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

A. Moser, C. Obie, D. Valle, 1999, Nature Genetics.

Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy

H. Moser, A. Moser, J. Powers, 2000, Journal of neuropathology and experimental neurology.

Cerebral X‐linked adrenoleukodystrophy in a girl with Xq27‐Ter deletion

H. Moser, A. Moser, G. Narkis, 2002, Annals of neurology.

Potential Environmental and Host Participants in the Early White Matter Lesion of Adreno‐Leukodystrophy: Morphologic Evidence for CD8 Cytotoxic T Cells, Cytolysis of Oligodendrocytes, and CD1‐Mediated Lipid Antigen Presentation

H. Moser, A. Moser, K. Smith, 2001, Journal of neuropathology and experimental neurology.

THE MYELOPATHY OF ADRENOMYELONEUROPATHY (AMN)

H. Moser, A. Moser, J. Powers, 1993 .

Fetal adrenoleukodystrophy: the significance of pathologic lesions in adrenal gland and testis.

H. Moser, A. Moser, J. Powers, 1982, Human pathology.

THE DORSAL ROOT GANGLIA IN ADRENOMYELO-NEUROPATHY (AMN)

H. Moser, A. Moser, E. Richfield, 1999 .

: Increased plasma content of saturated very long chain fatty acids

H. Moser, A. Moser, Brian, 2006 .

Effects of subperineurial injections of very-long-chain and medium-chain fatty acids into rat sciatic nerve.

H. Moser, A. Moser, N. Sacktor, 1986, Neurochemical pathology.

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.

E. Zackai, H. Moser, A. Moser, 1986, American journal of medical genetics.

Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy

H. Moser, A. Moser, D. Griffin, 1985, Annals of neurology.

Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex.

H. Moser, A. Moser, Y. Kishimoto, 1981, Biochemical and biophysical research communications.

Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts

H. Moser, A. Moser, Y. Kishimoto, 1980, Annals of neurology.

High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients.

H. Moser, A. Moser, Y. Kishimoto, 1978, Biochemical and biophysical research communications.

Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy

A. Moser, G. Raymond, A. Fatemi, 2017, JAMA neurology.

Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil.

H. Moser, A. Moser, E. Melhem, 2005, Archives of neurology.

Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

A. Moser, R. Kelley, M. Natowicz, 1997, American journal of medical genetics.

Fatty acids and TxA(2) generation, in the absence of platelet-COX-1 activity.

A. Moser, A. Jaffe, S. Rai, 2014, Nutrition, metabolism, and cardiovascular diseases : NMCD.

α‐Synuclein abnormalities in mouse models of peroxisome biogenesis disorders

A. Moser, D. Crane, Ann Saada, 2009, Journal of neuroscience research.

The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy.

A. Moser, J. Lizcano, E. Dalfo, 2020, Free radical biology & medicine.

Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy.

A. Moser, A. Fatemi, 2018, JAMA neurology.

Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells

H. Moser, A. Moser, R. Salvayre, 1995, Journal of the Neurological Sciences.

Peroxisomal very long chain fatty acid beta-oxidation activity is determined by the level of adrenodeukodystrophy protein (ALDP) expression.

A. Moser, K. Smith, P. Watkins, 1999, Molecular genetics and metabolism.

Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.

H. Moser, A. Moser, A. J. Mcadams, 1982, The Johns Hopkins medical journal.

Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy

A. Moser, P. Watkins, L. Braiterman, 1998, Nature Medicine.

Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division

A. Moser, Y. Fujiki, M. Honsho, 2012, Journal of Cell Science.

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Michael F. Wangler, J. Rosenfeld, A. Moser, 2020, Neuron.

Associations Between Systemic Omega-3 Fatty Acid Levels With Moderate-to-Severe Dry Eye Disease Signs and Symptoms at Baseline in the Dry Eye Assessment and Management Study.

A. Moser, G. Ying, P. Asbell, 2020, Eye & contact lens.

Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome

H. Moser, A. Moser, R. Kelley, 2004, Acta Neuropathologica.

Anti-Ganglioside Antibodies Bind with Enhanced Affinity to Gangliosides Containing Very Long Chain Fatty Acids

H. Moser, A. Moser, R. Schnaar, 2002, Neurochemical Research.

Myelin basic protein as an encephalitogen in encephalomyelitis and polyneuritis following rabies vaccination.

A. Moser, P. Phanuphak, D. Griffin, 1987, The New England journal of medicine.

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Michael F. Wangler, A. Moser, V. Sutton, 2018, Genetics in Medicine.

Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.

H. Moser, A. Moser, P. Watkins, 2001, The Journal of biological chemistry.

Peroxisomal bifunctional enzyme deficiency.

A. Moser, P. Watkins, R. Kelley, 1989, The Journal of clinical investigation.

Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response

A. Moser, F. Eichler, J. Hofmann, 2022, Communications Biology.

Adenoassociated virus serotype 9-mediated gene therapy for x-linked adrenoleukodystrophy.

A. Moser, F. Eichler, X. Breakefield, 2015, Molecular therapy : the journal of the American Society of Gene Therapy.

Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses.

H. Moser, A. Moser, J. Frías, 1985, Human pathology.

Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage.

H. Moser, A. Moser, G. Hoefler, 1991, The Journal of clinical investigation.

Late-onset metachromatic leukodystrophy

H. Moser, A. Moser, N. Baumann, 2006, Neurology.

X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans.

A. Moser, F. Eichler, A. Vanderver, 2017, Molecular genetics and metabolism.

Solvent Vapor Abuse Leukoencephalopathy. Comparison to Adrenoleukodystrophy

H. Moser, A. Moser, B. Kleinschmidt-DeMasters, 1994, Journal of neuropathology and experimental neurology.

Drug discovery for X‐linked adrenoleukodystrophy: An unbiased screen for compounds that lower very long‐chain fatty acids

A. Moser, A. Fatemi, P. Watkins, 2021, Journal of cellular biochemistry.

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

A. Moser, P. Asbell, M. Maguire, 2013, Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics.

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

H. Moser, A. Moser, G. Cutting, 2004, Molecular genetics and metabolism.

Lipid Status and Long-Chain Polyunsaturated Fatty Acid Concentrations in Adults and Adolescents with Phenylketonuria on Phenylalanine-Restricted Diet

A. Moser, R. Koch, K. Moseley, 2002, Journal of Inherited Metabolic Disease.

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

Michael F. Wangler, A. Moser, C. Coarfa, 2017, PLoS genetics.

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

A. Moser, F. Eichler, G. Raymond, 2022, Neurology.

Mff functions with Pex11pβ and DLP1 in peroxisomal fission

A. Moser, Y. Fujiki, M. Honsho, 2013, Biology Open.

Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

A. Moser, G. Raymond, N. Braverman, 2012 .

Is microglial apoptosis an early pathogenic change in cerebral X‐linked adrenoleukodystrophy?

A. Moser, F. Eichler, M. Frosch, 2008, Annals of neurology.

Brain, liver, and adipose tissue erucic and very long chain fatty acid levels in adrenoleukodystrophy patients treated with glyceryl trierucate and trioleate oils (Lorenzo's Oil)

H. Moser, A. Moser, J. Borel, 1994, Neurochemical Research.

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

A. Moser, F. Alvarez, G. Mitchell, 2013, PloS one.

Plasma exchange removes glycosphingolipid in Fabry disease.

H. Moser, A. Moser, R. Pyeritz, 1980, American journal of medical genetics.

Ataxia and peripheral neuropathy: A benign variant of peroxisome dysgenesis

A. Moser, M. Maccollin, D. D. De Vivo, 1990, Annals of neurology.

Altered expression of ALDP in X-linked adrenoleukodystrophy.

H. Moser, A. Moser, K. Smith, 1995, American journal of human genetics.

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

A. Moser, N. Braverman, P. Kim, 2017, Autophagy.

A Pex7 Deficient Mouse Series Correlates Biochemical and Neurobehavioral Markers to Genotype Severity—Implications for the Disease Spectrum of Rhizomelic Chondrodysplasia Punctata Type 1

A. Moser, N. Braverman, C. Pifl, 2022, Frontiers in Cell and Developmental Biology.

Early manifestations of multiple sulfatase deficiency.

H. Moser, A. Moser, R. Burk, 1984, The Journal of pediatrics.

Bezafibrate for X-Linked Adrenoleukodystrophy

A. Moser, R. Wanders, B. Poll-The, 2012, PloS one.

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

A. Moser, G. Raymond, C. Reeves, 2011, Molecular genetics and metabolism.

Plasma and Red Blood Cell Fatty Acids in Peroxisomal Disorders

H. Moser, A. Moser, G. Raymond, 1999, Neurochemical Research.

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

A. Moser, A. Fatemi, L. Poisson, 2022, JIMD reports.

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

A. Moser, D. Valle, G. Jiménez-Sánchez, 2015, Human molecular genetics.

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

A. Moser, G. Raymond, W. Hubbard, 2014, Molecular genetics and metabolism.

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.

A. Moser, G. Raymond, W. Hubbard, 2012, Molecular genetics and metabolism.

Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.

A. Moser, K. Smith, S. Zheng, 1998, Human molecular genetics.

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

H. Moser, A. Moser, G. Raymond, 2009, Journal of Inherited Metabolic Disease.

Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection

A. Moser, G. Cutting, S. Katsanis, 2005, Journal of Medical Genetics.

Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.

A. Moser, R. Kelley, L. Kratz, 1999, American journal of medical genetics.

Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future

A. Moser, G. Raymond, Elisa Seeger, 2022, International journal of neonatal screening.

Newborn Screening for Adrenoleukodystrophy

A. Moser, G. Raymond, Richard O Jones, 2012, Molecular Diagnosis & Therapy.

Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts

A. Moser, E. Holtzman, V. Sapirstein, 1986, Journal of Inherited Metabolic Disease.

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Michael F. Wangler, A. Moser, S. Daiger, 2016, Molecular genetics and metabolism reports.

Auditory evoked brainstem response and high‐performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy

F. R. Brown, H. Moser, A. Moser, 1981, Neurology.

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

A. Moser, E. Puffenberger, K. Strauss, 2010, Molecular genetics and metabolism.

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

A. Moser, S. Jiralerspong, N. Braverman, 2012, Human mutation.

The Dorsal Root Ganglia in Adrenomyeloneuropathy: Neuronal Atrophy and Abnormal Mitochondria

H. Moser, A. Moser, E. Richfield, 2001, Journal of neuropathology and experimental neurology.

MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines

A. Moser, F. Eichler, A. Vanderver, 2020, Journal of inherited metabolic disease.

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

A. Moser, E. Puffenberger, K. Strauss, 2011, Molecular genetics and metabolism.

Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells

H. Moser, A. Moser, J. Powers, 1999, Acta Neuropathologica.

Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

H. Moser, A. Moser, D. Rimoin, 1999, Prenatal diagnosis.

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

H. Moser, A. Moser, C. Obie, 1997, Nature Genetics.

Biochemical abnormalities in rhizomelic chondrodysplasia punctata.

A. Moser, J. Charrow, P. Watkins, 1988, The Journal of pediatrics.

Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders

A. Moser, S. Goldfischer, J. Arias, 1985, The Journal of cell biology.

Adreno-leukodystrophy: Oxidative Stress of Mice and Men

H. Moser, A. Moser, P. Watkins, 2005, Journal of neuropathology and experimental neurology.

Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening

H. Moser, A. Moser, G. Raymond, 2001, Annals of neurology.

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls

H. Moser, A. Moser, G. Raymond, 1999, Annals of neurology.

Preliminary observations on the occurrence of cholesterol sulfate in man.

H. Moser, A. Moser, J. C. Orr, 1966, Biochimica et biophysica acta.

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

A. Moser, E. Bongarzone, W. Hubbard, 2014, Molecular genetics and metabolism.

A fibroblast cell line defective in alkyl-dihydroxyacetone phosphate synthase: a novel defect in plasmalogen biosynthesis.

H. Moser, A. Moser, A. Das, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Sulfatide and sphingomyelin loading of living cells as tools for the study of ceramide turnover by lysosomal ceramidase--implications for the diagnosis of Farber disease.

H. Moser, A. Moser, R. Salvayre, 1995, Biochemical and molecular medicine.

PRENATAL DIAGNOSIS OF FARBER'S DISEASE

H. Moser, A. Moser, P. Benson, 1979, The Lancet.

Human acid ceramidase gene: novel mutations in Farber disease.

H. Moser, A. Moser, D. Zimonjic, 2000, Molecular genetics and metabolism.

A mouse model for X-linked adrenoleukodystrophy.

H. Moser, A. Moser, K. Smith, 1997, Proceedings of the National Academy of Sciences of the United States of America.

Structural and Chemical Alterations in the Cerebral Maldevelopment of Fetal Cerebro‐Hepato-Renal (Zellweger) Syndrome

H. Moser, A. Moser, V. Caviness, 1989, Journal of neuropathology and experimental neurology.

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.

A. Moser, G. Raymond, D. Gordon, 1995, The Journal of pediatrics.

Adrenoleukodystrophy

H. Moser, A. Moser, B. O'neill, 1998, Neurology.

X-linked Adrenoleukodystrophy: Pathology, Pathophysiology, Diagnostic Testing, Newborn Screening, and Therapies

A. Moser, A. Fatemi, C. Theda, 2019, International Journal of Developmental Neuroscience.

Genetic and Phenotypic Heterogeneity in Disorders of Peroxisome Biogenesis—A Complementation Study Involving Cell Lines from 19 Patients

H. Moser, A. Moser, A. Roscher, 1989, Pediatric Research.

A very long-chain acyl-CoA synthetase-deﬁcient mouse and its relevance to X-linked adrenoleukodystrophy

A. Moser, P. Watkins, S. Mihalik, 2003 .

Investigational Methods for Peroxisomal Disorders

A. Moser, S. Steinberg, C. Tiffany, 2008, Current protocols in human genetics.

Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.

A. Moser, S. Ferdinandusse, H. Waterham, 2017, American journal of human genetics.

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

A. Moser, A. Vanderver, C. Toro, 2017, Molecular genetics and metabolism.

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

Michael F. Wangler, A. Moser, J. Hacia, 2016, Molecular genetics and metabolism.

Peroxisome biogenesis disorders.

H. Moser, A. Moser, G. Raymond, 2006, Biochimica et biophysica acta.

Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.

Hugo Moser, H. Moser, A. Moser, 2006, Molecular genetics and metabolism.

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.

H. Moser, A. Moser, N. Shimozawa, 2003, American journal of human genetics.

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

P. K. Chakraborty, H. Moser, A. Moser, 2002, Human mutation.

Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.

H. Moser, A. Moser, R. Wanders, 1993, American journal of human genetics.

Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome.

H. Moser, A. Moser, L. Jackson, 1985, The New England journal of medicine.

The Prenatal Diagnosis of Adrenoleukodystrophy. Demonstration of Increased Hexacosanoic Acid Levels in Cultured Amniocytes and Fetal Adrenal Gland

B. Migeon, H. Moser, A. Moser, 1982, Pediatric Research.

Long Chain Fatty Acids and Peroxisomal Disorders

H. Moser, A. Moser, 2006 .

Peroxisomal Disorders: Overview

A. Moser, H. Moser, 1996, Annals of the New York Academy of Sciences.

Neonatal seizures and retardation in a girl with biochemical features of X‐linked adrenoleukodystrophy

H. Moser, A. Moser, T. Hashimoto, 1988, Neurology.

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

Amanda M. Lauer, A. Moser, D. Zack, 2014, Molecular genetics and metabolism.

Peroxisomal ghosts are intracellular structures distinct from lysosomal compartments in Zellweger Syndrome: A confocal laser scanning microscopy study

H. Moser, A. Moser, P. Lazarow, 2000, Biology of the cell.

Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.

H. Moser, A. Moser, S. Gould, 1995, Journal of cell science.

Analysis of Peroxisomes in Lymphoblasts: Zellweger Syndrome and a Patient with a Deletion in Chromosome 7

H. Moser, A. Moser, P. Lazarow, 1993, Pediatric Research.

Peroxisome assembly mutations in humans: Structural heterogeneity in Zellweger syndrome

H. Moser, A. Moser, P. Lazarow, 1992, Journal of cellular physiology.

Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids.

H. Moser, A. Moser, P. Watkins, 1990, Biochemical and biophysical research communications.

The prenatal diagnosis of X‐linked adrenoleukodystrophy

H. Moser, A. Moser, 1999, Prenatal diagnosis.

Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.

H. Moser, A. Moser, A. Bergin, 1991, Developmental neuroscience.

Zellweger Syndrome Amniocytes: Morphological Appearance and a Simple Sedimentation Method for Prenatal Diagnosis

H. Moser, A. Moser, H. Shio, 1988, Pediatric Research.

First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe

A. Moser, R. Heilig, J. Mandel, 1985, Human Genetics.

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports

A. Moser, R. Pagon, B. Powell, 1990, Clinical genetics.

Urinary bile acids and peroxisomal bifunctional enzyme deficiency.

H. Moser, A. Moser, J. Evans, 1996, American journal of medical genetics.

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

A. Moser, B. Brügger, N. Braverman, 2015, Biochimica et biophysica acta.

The Inflammatory Myelinopathy of Adreno‐Leukodystrophy: Cells, Effector Molecules, and Pathogenetic Implications

H. Moser, A. Moser, Yan Liu, 1992, Journal of neuropathology and experimental neurology.

Nervonic Acid Attenuates Accumulation of Very Long-Chain Fatty Acids and is a Potential Therapy for Adrenoleukodystrophy

A. Moser, G. Raymond, P. Watkins, 2022, Neurotherapeutics.

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

B. Carlin, A. Moser, G. Raymond, 2016, British journal of clinical pharmacology.

“Lorenzo’s Oil” Therapy for X-linked Adrenoleukodystrophy: Rationale and Current Assessment of Efficacy

H. Moser, A. Moser, G. Raymond, 2007, Journal of Molecular Neuroscience.

Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.

A. Moser, I. Bièche, M. Vidaud, 2005, Human molecular genetics.

A new dietary therapy for adrenoleukodystrophy: Biochemical and preliminary clinical results in 36 patients

A. Moser, D. Sanders, D. Cornblath, 1987, Annals of neurology.

Adrenoleukodystrophy: effects of dietary restriction of very long chain fatty acids and of administration of carnitine and clofibrate on clinical status and plasma fatty acids.

H. Moser, A. Moser, W. Rizzo, 1982, The Johns Hopkins medical journal.

Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination

Hugo W. Moser, James M. Powers, Ann B. Moser, 1992, Journal of the Neurological Sciences.

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

A. Moser, C. Obie, D. Valle, 1999, Nature genetics.

Mutations in the Peroxin Pex26p Responsible for Peroxisome Biogenesis Disorders of Complementation Group 8 Impair Its Stability, Peroxisomal Localization, and Interaction with the Pex1p·Pex6p Complex*

Ann Moser, H. Moser, A. Moser, 2006, Journal of Biological Chemistry.

Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type

A. Moser, R. Wanders, M. Vincent, 2005, Journal of Inherited Metabolic Disease.

Metabolic control of peroxisome abundance.

Daniel E. Warren, S. South, H. Moser, 1999, Journal of cell science.

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

A. Moser, B. Rybicki, P. Gann, 2015, The Prostate.

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

A. Moser, D. Valle, K. Doheny, 2014, American journal of human genetics.

The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6

H. Moser, A. Moser, N. Braverman, 2001, Journal of Human Genetics.

Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.

A. Moser, K. Setchell, Robert H. Squires, 2003, Gastroenterology.

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

A. Moser, J. Hacia, D. Shibata, 2015, Stem Cell Research & Therapy.

Distinction between peroxisomal bifunctional enzyme and acyl‐CoA oxidase deficiencies

H. Moser, A. Moser, G. Raymond, 1995, Annals of neurology.

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

H. Moser, A. Moser, J. Hacia, 2011, Lipids in Health and Disease.

Pathologic findings in adrenoleukodystrophy heterozygotes.

H. Moser, A. Moser, R. Norum, 1987, Archives of pathology & laboratory medicine.

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

Michael F. Wangler, A. Moser, F. Xia, 2015, Molecular genetics and metabolism reports.

The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage

A. Moser, P. Watkins, J. Powers, 2007, Laboratory Investigation.

Increased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion.

H. Moser, A. Moser, C. Theda, 1993, The Journal of pediatrics.

Newborn Screening for X-Linked Adrenoleukodystrophy

A. Moser, G. Raymond, W. Hubbard, 2016, International journal of neonatal screening.

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

Kimberly D Siegmund, Oliver A Ryder, H. Moser, 2010, BMC Physiology.

Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy.

H. Moser, A. Moser, G. Raymond, 2006, Archives of neurology.

Very long-chain acyl-CoA synthetase 3 mediates onco-sphingolipid metabolism in malignant glioma.

A. Moser, A. Pandey, Emily Clay, 2021, Medical research archives.

Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency

J. T. Black, A. Moser, R. Schmidt, 2001, Annals of neurology.

X‐linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes

H. Moser, A. Moser, P. Dubey, 2005, Pediatric transplantation.

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

Fiona Crawford, Michael Mullan, Ann Moser, 2013, Neurotoxicology and teratology.

Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment.

Chris A. Johnson, W. Willett, A. Moser, 2004, Archives of ophthalmology.

Rhizomelic Chondrodysplasia Punctata Type 1

A. Moser, N. Braverman, S. Steinberg, 2012 .

Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency

A. Moser, S. Ferdinandusse, S. Denis, 2007, Human mutation.

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

A. Moser, D. Albanes, S. Weinstein, 2014, Cancer medicine.

Influence of long chain polyunsaturated fatty acids and ornithine concentrations on complications after renal transplant.

A. Moser, J. Alexander, P. Succop, 2008, Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation.

Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders.

A. Moser, T. Yuzyuk, N. Braverman, 2023, Clinica chimica acta; international journal of clinical chemistry.

Dyslipidemia and Atherosclerosis Induced by Chronic Intermittent Hypoxia Are Attenuated by Deficiency of Stearoyl Coenzyme A Desaturase

A. Moser, S. Bhanot, Jianguo Li, 2008, Circulation research.

Therapeutic strategies in adrenoleukodystrophy

A. Moser, A. Fatemi, Bela Turk, 2017, Wiener Medizinische Wochenschrift.

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593

H. Moser, A. Moser, C. Obie, 1997, Pediatric Research.

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

A. Moser, N. Braverman, G. Nimmo, 2010, Molecular genetics and metabolism.

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.

H. Moser, A. Moser, D. Valle, 2000, Genomics.

Peroxisomal disease cell lines with cellular plasmalogen deficiency have impaired muscarinic cholinergic signal transduction activity and amyloid precursor protein secretion.

H. Moser, A. Moser, G. Roth, 1998, Biochemical and biophysical research communications.

Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy

A. Moser, A. Fatemi, Anjali Sharma, 2022, Neurotherapeutics.

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

A. Moser, M. Kabra, S. Phadke, 2010, Journal of Applied Genetics.

Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation.

A. Moser, B. Poll-The, P. Watkins, 1993, Biochemical medicine and metabolic biology.

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

A. Moser, D. Shrier, H. Waterham, 2014, Journal of Inherited Metabolic Disease.

Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders

H. Moser, A. Moser, 2007, Lipids.

Myelin Membrane from Adrenoleukodystrophy Brain White Matter—Biochemical Properties

H. Moser, A. Moser, D. Kirschner, 1983, Journal of neurochemistry.

Alterations in the Plasma Levels of Specific Choline Phospholipids in Alzheimer’s Disease Mimic Accelerated Aging

A. Moser, P. Fischer, C. Wiesinger, 2018, Journal of Alzheimer's disease : JAD.

Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature.

Lora J. H. Bean, Meredith A. Weaver, A. Moser, 2021, Molecular genetics and metabolism.

Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry.

B. Migeon, H. Moser, A. Moser, 1980, The Johns Hopkins medical journal.

The peroxisome deficient PEX2 zellweger mouse

H. Moser, A. Moser, P. Faust, 2001, Journal of Molecular Neuroscience.

A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Michael F. Wangler, A. Moser, V. Sutton, 2018, Genetics in Medicine.

Life expectancy in rhizomelic chondrodysplasia punctata

H. Moser, A. Moser, G. Raymond, 1996 .

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

Bo Ram Kim, A. Moser, J. Hacia, 2015, Stem Cell Research & Therapy.

Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy

A. Moser, G. Raymond, E. Mowry, 2021, medRxiv.

Familial risk for bipolar disorder is not associated with impaired peroxisomal function: Dissociation from docosahexaenoic acid deficits

A. Moser, S. Strakowski, M. DelBello, 2016, Psychiatry Research.

87 FETAL CEREBRO-HEPATO-RENAL (ZELLWEGER) SYNDROME: NEUROPATHOLOGIC FINDINGS RELEVANT TO THE CEREBRAL MALFORMATION

H. Moser, A. Moser, V. Caviness, 1984 .

Newborn screening for adrenoleukodystrophy: implications for therapy.

A. Moser, G. Raymond, Richard O Jones, 2007, Molecular diagnosis & therapy.

Effect of erucic acid on platelets in patients with adrenoleukodystrophy.

A. Moser, W. Zinkham, J. Borel, 1996, Biochemical and molecular medicine.

Human Bifunctional Enzyme and Its Import into Peroxisomes

A. Moser, G. Hoefler, G. L. Chen, 1993 .

Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease

A. Moser, G. Maegawa, V. Godoy, 2018, Molecular genetics and metabolism reports.

Impaired membrane traffic in defective ether lipid biosynthesis.

A. Moser, A. Jauch, K. Gorgas, 2001, Human molecular genetics.

Increased levels of ceramide in the retina of a patient with Farber's disease.

A. Moser, W. Green, M. Zarbin, 1988, Archives of ophthalmology.

Polyneuropathy in feline Niemann-Pick disease.

A. Moser, I. Duncan, J. Parent, 1989, Brain : a journal of neurology.

Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.

A. Moser, D. Miles, A. Spiro, 1993, Pediatric Neurology.

Adrenoleukodystrophy: Phenotypic variability and implications for therapy

H. Moser, A. Moser, J. Ott, 1992, Journal of Inherited Metabolic Disease.

MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy

H. Moser, A. Moser, L. Nagae-Poetscher, 2003, Neurology.

Adrenomyeloneuropathy: A Neuropathologic Review Featuring Its Noninflammatory Myelopathy

H. Moser, A. Moser, C. Raine, 2000, Journal of neuropathology and experimental neurology.

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.

A. Moser, G. Raymond, W. Hubbard, 2012, Molecular genetics and metabolism.

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

A. Moser, F. Villarroya, N. Bargalló, 2019, Neurotherapeutics.

Rhizomelic Chondrodysplasia Punctata Type 1

A. Moser, N. Braverman, S. Steinberg, 2012 .

Vitamin D status and latitude predict brain lesions in adrenoleukodystrophy

A. Moser, G. Raymond, E. Mowry, 2023, Annals of the Child Neurology Society.

Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency.

A. Moser, E. Elias, A. Hajra, 1998, American journal of medical genetics.

Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division

A. Moser, Y. Fujiki, M. Honsho, 2012, Journal of Cell Science.