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Ann Moser

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Ann B Moser; Oliver A Ryder; Junsong Zhao; Laura A Cox; Patricia K Dranchak; Jody Hey; Mazen W Karaman; Joseph G Hacia
Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells.
Nancy E Braverman; Ann B Moser
Functions of plasmalogen lipids in health and disease.
Yana Sandlers; Walter Hubbard; Richard O Jones; Lisa Kratz; Ann B Moser; Gerald V Raymond
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.

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2013: Ann B Moser; Oliver A Ryder; Junsong Zhao; Laura A Cox; Patricia K Dranchak; Jody Hey; Mazen W Karaman; Joseph G Hacia
Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells.
Lipids in health and disease 2013;12():10.
2012: Nancy E Braverman; Ann B Moser
Functions of plasmalogen lipids in health and disease.
Biochimica et biophysica acta 2012;1822(9):1442-52.
2012: Yana Sandlers; Walter Hubbard; Richard O Jones; Lisa Kratz; Ann B Moser; Gerald V Raymond
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy.
Molecular genetics and metabolism 2012;105(3):416-20.
2012: Akinori Itoyama; Ann B Moser; Yumi Yoshida; Yuichi Abe; Masanori Honsho; Yukio Fujiki
Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division.
Journal of cell science 2012;125(Pt 3):589-602.
2012: Marc Engelen; Josephine Brennecke; Inge M E Dijkstra; Ann B Moser; Rob Ofman; Bwee Tien Poll-The; Luc Tran; Ronald J A Wanders; Stephan Kemp
Bezafibrate for X-linked adrenoleukodystrophy.
PloS one 2012;7(7):e41013.
2012: Brandon Itzkovitz; Sarn Jiralerspong; Graeme Nimmo; Ann Snowden; Dafne D G Horovitz; Steve Steinberg; Ann B Moser; Melissa Loscalzo; Nancy Braverman
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
Human mutation 2012;33(1):189-97.
2011: Kevin A Strauss; Silvia Tortorelli; Bridget Wardley; Joan Brumbaugh; Alana Duffy; Christine Hendrickson; Ann B Moser; Erik G Puffenberger; Nicholas L Rider; Donna Robinson; D Holmes Morton
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.
Molecular genetics and metabolism 2011;104(1-2):93-106.
2011: Ying Wang; Paul A Watkins; Gail Stetten; Karen Tam; Cicely J Toomer; Lena Bezman; Genila Bibat; Rachel Busin; Lawrence Charnas; Joe T R Clarke; Garry R Cutting; Stacy Hewson; Barbara Karczeski; Ann B Moser; Sakkubai Naidu; Gerald V Raymond; Catherine Reeves; Ann Snowden; Steven J Steinberg
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Molecular genetics and metabolism 2011;104(1-2):160-6.
2011: Ann B Moser; Hugo W Moser; Krishna Ramaswamy; Oliver A Ryder; Kimberly D Siegmund; Steven J Steinberg; Paul A Watkins; John J Ely; D Rick Lee; Joseph G Hacia
Human and great ape red blood cells differ in plasmalogen levels and composition.
Lipids in health and disease 2011;10():101.
2010: G Neumann; B Schlüter; D Hornung; Stefan Gottschalk; Ann B Moser
Neurological picture. Reversible eclamptic leucoencephalopathy syndrome with severe brainstem involvement without neurological signs.
Journal of neurology, neurosurgery, and psychiatry 2010;81(9):1026-7.
2010: A M Paker; J S Sunness; N H Brereton; LYNN SPEEDIE; L Albanna; S Dharmaraj; Ann B Moser; Richard O Jones; Gerald V Raymond
Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial.
Neurology 2010;75(9):826-30.
2010: A Thümen; Ann B Moser
An uncommon paraneoplastic Ri-positive opsoclonus-myoclonus-like syndrome and stiff-person syndrome with elevated glutamate/GABA ratio in the cerebrospinal fluid after breast cancer.
Journal of neurology 2010;257(7):1215-7.
2010: Kevin A Strauss; Bridget Wardley; Donna Robinson; Christine Hendrickson; Nicholas L Rider; Erik G Puffenberger; Diana Shelmer; Ann B Moser; Diana Shellmer; D Holmes Morton
Classical maple syrup urine disease and brain development: principles of management and formula design.
Molecular genetics and metabolism 2010;99(4):333-45.
2010: Nancy Braverman; Rui Zhang; Li Chen; Graeme Nimmo; Sarah Scheper; Tammy Tran; Rupsa Chaudhury; Ann B Moser; Steven J Steinberg
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.
Molecular genetics and metabolism 2010;99(4):408-16.
2010: Eugenia Yakunin; Ann B Moser; Virginie Loeb; Ann Saada (Reisch); Phyllis Faust; Denis I Crane; Myriam Baes; Ronit Sharon
alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders.
Journal of neuroscience research 2010;88(4):866-76.
2010: Paul A Watkins; Ann B Moser; Cicely B Toomer; Steven J Steinberg; Hugo W Moser; Mazen W Karaman; Krishna Ramaswamy; Kimberly D Siegmund; D Rick Lee; John J Ely; Oliver A Ryder; Joseph G Hacia
Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions.
BMC physiology 2010;10():19.
2009: Walter Hubbard; Ann B Moser; Anita C Liu; Richard O Jones; Steven J Steinberg; Fred Lorey; SUSAN PANNY; Robert F Vogt; Daniela Macaya; Coleman T Turgeon; Silvia Tortorelli; Gerald V Raymond
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Molecular genetics and metabolism 2009;97(3):212-20.
2009: Wing Yan Yik; Steven J Steinberg; Ann B Moser; Hugo W Moser; Joseph G Hacia
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Human mutation 2009;30(3):E467-80.
2009: Steven J Steinberg; A Snowden; Nancy Braverman; L Chen; Paul A Watkins; P T Clayton; K D R Setchell; James Heubi; Gerald V Raymond; Ann B Moser; Hugo W Moser
A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
Journal of inherited metabolic disease 2009;32(1):109-19.
2008: VLADIMIR SAVRANSKY; Jonathan Jun; Jianguo Li; Ashika Nanayakkara; Shannon Fonti; Ann B Moser; Kimberley E Steele; Michael Schweitzer; Susheel Patil; Sanjay Bhanot; Alan R Schwartz; Vsevolod Y Polotsky
Dyslipidemia and atherosclerosis induced by chronic intermittent hypoxia are attenuated by deficiency of stearoyl coenzyme A desaturase.
Circulation research 2008;103(10):1173-80.
2008: Steven J Steinberg; Richard O Jones; CAROL TIFFANY; Ann B Moser
Investigational methods for peroxisomal disorders.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2008;Chapter 17():Unit 17.6.
2008: J Wesley Alexander; Hope R Goodman; Paul Succop; Jimmy A Light; Paul C Kuo; Ann B Moser; J Howard James; E Steve Woodle
Influence of long chain polyunsaturated fatty acids and ornithine concentrations on complications after renal transplant.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2008;6(2):118-26.
2008: Florian Eichler; Jia-Qian Ren; Michael Cossoy; Anna M Rietsch; Sameer Nagpal; Ann B Moser; Matthew P Frosch; Richard M Ransohoff
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
Annals of neurology 2008;63(6):729-42.
2008: N Brueggemann; L Doegnitz; L Harms; Ann B Moser; J M Hagenah
Skin reactions after intramuscular injection of Botulinum toxin A: a rare side effect.
Journal of neurology, neurosurgery, and psychiatry 2008;79(2):231-2.
2007: Hugo W Moser; Ann B Moser; Kim Hollandsworth; N Hong Brereton; Gerald V Raymond
"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.
Journal of molecular neuroscience : MN 2007;33(1):105-13.
2007: Sacha Ferdinandusse; Simone Denis; Eveline M Hogenhout; Jan Koster; Carlo W T van Roermund; Lodewijk IJlst; Ann B Moser; Ronald J A Wanders; Hans R Waterham
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
Human mutation 2007;28(9):904-12.
2007: Jyh-Feng Lu; EMILY BARRON-CASELLA; Rebecca Deering; Ann Heinzer; Ann B Moser; Karen L deMesy Bentley; Gary S Wand; Martina C McGuinness; Zhengtong Pei; Paul A Watkins; Aurora Pujol; Kirby D Smith; James M Powers
The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage.
Laboratory investigation; a journal of technical methods and pathology 2007;87(3):261-72.
2007: Gerald V Raymond; Richard O Jones; Ann B Moser
Newborn screening for adrenoleukodystrophy: implications for therapy.
Molecular diagnosis & therapy 2007;11(6):381-4.
2006: Steven J Steinberg; Gabriele Dodt; Gerald V Raymond; Nancy Braverman; Ann B Moser; Hugo W Moser
Peroxisome biogenesis disorders.
Biochimica et biophysica acta 2006;1763(12):1733-48.
2006: Helmut Rauschka; Benoît Colsch; Nicole Baumann; R Wevers; Manfred Schmidbauer; M Krammer; Jean-Claude Turpin; Mireille Lefevre; C Olivier; Sandrine Tardieu; William Krivit; H Moser; Ann B Moser; Volkmar Gieselmann; Bernard Zalc; T Cox; U Reuner; Anna Tylki-Szymanska; Fahmy Aboul-Enein; Eric LeGuern; Hanno Bernheimer; Johannes Berger
Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.
Neurology 2006;67(5):859-63.
2006: Walter Hubbard; Ann B Moser; Silvia Tortorelli; Anita Liu; David Jones; Hugo Moser
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.
Molecular genetics and metabolism 2006;89(1-2):185-7.
2006: M Mantovani; Vera van Velthoven; H Fuellgraf; Thomas J Feuerstein; Ann B Moser
Neuronal electrical high frequency stimulation enhances GABA outflow from human neocortical slices.
Neurochemistry international 2006;49(4):347-50.
2006: Holger Rambold; Ann B Moser; B Zurowski; J Gbadamosi; Detlef Kömpf; Andreas Sprenger; Christoph Helmchen
Saccade initiation in ocular motor apraxia.
Journal of neurology 2006;253(7):950-2.
2006: Satomi Furuki; Shigehiko Tamura; Naomi Matsumoto; Non Miyata; Ann B Moser; Hugo W Moser; Yukio Fujiki
Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.
The Journal of biological chemistry 2006;281(3):1317-23.
2006: Christiane Sylvia Cox; Prachi Dubey; Gerald V Raymond; Asif Mahmood; Ann B Moser; Hugo W Moser
Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy.
Archives of neurology 2006;63(1):69-73.
2005: James M Powers; Zhengtong Pei; Ann Heinzer; Rebecca Deering; Ann B Moser; Hugo W Moser; Paul A Watkins; Kirby D Smith
Adreno-leukodystrophy: oxidative stress of mice and men.
Journal of neuropathology and experimental neurology 2005;64(12):1067-79.
2005: Asif Mahmood; Prachi Dubey; Hugo W Moser; Ann B Moser
X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes.
Pediatric transplantation 2005;9 Suppl 7():55-62.
2005: Hugo W Moser; Gerald V Raymond; Shou-En Lu; Larry R Muenz; Ann B Moser; Jiahong Xu; Richard O Jones; Daniel J Loes; Elias Melhem; Prachi Dubey; Lena Bezman; N Hong Brereton; Augusto Odone
Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil.
Archives of neurology 2005;62(7):1073-80.
2005: Muriel Asheuer; Ivan Bieche; Ingrid Laurendeau; Ann B Moser; Bernard Hainque; Michel Vidaud; Patrick Aubourg
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
Human molecular genetics 2005;14(10):1293-303.
2005: Prachi Dubey; Gerald V Raymond; Ann B Moser; Sidharth Kharkar; Lena Bezman; Hugo W Moser
Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening.
The Journal of pediatrics 2005;146(4):528-32.
2005: Lionel Van Maldergem; Ann B Moser; M-F Vincent; Dominique Roland; R Reding; J-B Otte; R J Wanders; E Sokal
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.
Journal of inherited metabolic disease 2005;28(4):593-600.
2005: Steven J Steinberg; S Katsanis; Ann B Moser; Garry R Cutting
Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection.
Journal of medical genetics 2005;42(1):38-44.
2004: Steven J Steinberg; Li Chen; Liumei Wei; Ann B Moser; Hugo Moser; Garry R Cutting; Nancy Braverman
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Molecular genetics and metabolism 2004;83(3):252-63.
2004: Eliot L Berson; Bernard Rosner; Michael A Sandberg; Carol Weigel-DiFranco; Ann B Moser; Robert J Brockhurst; KC Hayes; Chris A Johnson; Ellen J Anderson; Alexander R Gaudio; Walter C Willett; Ernst Schaefer
Further evaluation of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment: subgroup analyses.
Archives of ophthalmology 2004;122(9):1306-14.
2004: Eliot L Berson; Bernard Rosner; Michael A Sandberg; Carol Weigel-DiFranco; Ann B Moser; Robert J Brockhurst; KC Hayes; Chris A Johnson; Ellen J Anderson; Alexander R Gaudio; Walter C Willett; Ernst Schaefer
Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment.
Archives of ophthalmology 2004;122(9):1297-305.
2004: J Scholz; I Klingemann; Ann B Moser
Increased systemic levels of norsalsolinol derivatives are induced by levodopa treatment and do not represent biological markers of Parkinson's disease.
Journal of neurology, neurosurgery, and psychiatry 2004;75(4):634-6.
2003: Etienne M Sokal; Françoise Smets; Annick Bourgois; Lionel Van Maldergem; Jean-Paul Buts; Raymond Reding; Jean Bernard Otte; Veerle Evrard; Dominique Latinne; Marie Françoise Vincent; Ann B Moser; Humberto E Soriano
Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up.
Transplantation 2003;76(4):735-8.
2003: Naomi Matsumoto; Shigehiko Tamura; Satomi Furuki; Non Miyata; Ann B Moser; Nobuyuki Shimozawa; Hugo W Moser; Yasuyuki Suzuki; Naomi Kondo; Yukio Fujiki
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
American journal of human genetics 2003;73(2):233-46.
2003: Ann Heinzer; Paul A Watkins; Jyh-Feng Lu; Stephan Kemp; Ann B Moser; Yuan Yuan Li; Stephanie J Mihalik; James M Powers; Kirby D Smith
A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy.
Human molecular genetics 2003;12(10):1145-54.
2003: S. Ali Fatemi; Peter B Barker; Aziz Ulug; Lidia M Nagae-Poetscher; N J Beauchamp; Ann B Moser; Gerald V Raymond; Hugo W Moser; Sakkubai Naidu
MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophy.
Neurology 2003;60(8):1301-7.
2003: Zhiping Li; Shiqi Yang; Huizhi Lin; Jiawen Huang; Paul A Watkins; Ann B Moser; Claudio Desimone; Xiao-yu Song; Anna Mae Diehl
Probiotics and antibodies to TNF inhibit inflammatory activity and improve nonalcoholic fatty liver disease.
Hepatology (Baltimore, Md.) 2003;37(2):343-50.
2003: Kenneth D R Setchell; James Heubi; Kevin E Bove; Nancy C O'Connell; Tracy Brewsaugh; Steven J Steinberg; Ann B Moser; Robert H Squires
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.
Gastroenterology 2003;124(1):217-32.
2002: Nancy Braverman; Li Chen; Paul Lin; Cassandra Obie; Gary Steel; Pamela Douglas; Pranesh K Chakraborty; Joe T R Clarke; Avihu Boneh; Ann B Moser; Hugo Moser; David Valle
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.
Human mutation 2002;20(4):284-97.
2002: Yumi Tagawa; Wouter Laroy; Leonardo Nimrichter; Susan E Fromholt; Ann B Moser; Hugo W Moser; Ronald Schnaar
Anti-ganglioside antibodies bind with enhanced affinity to gangliosides containing very long chain fatty acids.
Neurochemical research 2002;27(7-8):847-55.
2002: Eli Hershkovitz; Ginat Narkis; Zamir Shorer; Ann B Moser; Paul A Watkins; Hugo W Moser; Esther Manor
Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletion.
Annals of neurology 2002;52(2):234-7.
2002: Deyanira Corzo; William Gibson; Kisha Johnson; Grant Mitchell; Guy LePage; Gerald F Cox; Robin Casey; Carolyn Zeiss; Heidi Tyson; Garry R Cutting; Gerald V Raymond; Kirby D Smith; Paul A Watkins; Ann B Moser; Hugo W Moser; Steven J Steinberg
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
American journal of human genetics 2002;70(6):1520-31.
2002: Kathryn Moseley; Richard Koch; Ann B Moser
Lipid status and long-chain polyunsaturated fatty acid concentrations in adults and adolescents with phenylketonuria on phenylalanine-restricted diet.
Journal of inherited metabolic disease 2002;25(1):56-64.
2001: H M Su; Ann B Moser; Hugo W Moser; Paul A Watkins
Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.
The Journal of biological chemistry 2001;276(41):38115-20.
2001: M Ito; Benjamin M Blumberg; David J Mock; Andrew D Goodman; Ann B Moser; H W Moser; Kirby D Smith; James M Powers
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.
Journal of neuropathology and experimental neurology 2001;60(10):1004-19.
2001: James M Powers; D P DeCiero; Christiane Sylvia Cox; E K Richfield; M Ito; Ann B Moser; H W Moser
The dorsal root ganglia in adrenomyeloneuropathy: neuronal atrophy and abnormal mitochondria.
Journal of neuropathology and experimental neurology 2001;60(5):493-501.
2001: Phyllis L Faust; H M Su; Ann B Moser; H W Moser
The peroxisome deficient PEX2 Zellweger mouse: pathologic and biochemical correlates of lipid dysfunction.
Journal of molecular neuroscience : MN 2001;16(2-3):289-97; discussion 317-21.
2001: Lena Bezman; Ann B Moser; Gerald V Raymond; P Rinaldo; Paul A Watkins; Kirby D Smith; Nancy Kass; Hugo W Moser
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.
Annals of neurology 2001;49(4):512-7.
2001: J M Powers; D S Rosenblatt; R E Schmidt; A H Cross; J T Black; Ann B Moser; H W Moser; D J Morgan
Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency.
Annals of neurology 2001;49(3):396-400.
2001: Thanh-Phuong Thai; Claus Rodemer; A Jauch; A Hunziker; Ann B Moser; Karin Gorgas; Wilhelm W Just
Impaired membrane traffic in defective ether lipid biosynthesis.
Human molecular genetics 2001;10(2):127-36.
2001: Naomi Matsumoto; Shigehiko Tamura; Ann B Moser; Hugo W Moser; N Braverman; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Yukio Fujiki
The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.
Journal of human genetics 2001;46(5):273-7.
2000: Zhongjian Zhang; A K Mandal; A Mital; N Popescu; Drazen Zimonjic; Ann B Moser; H Moser; Anil B Mukherjee
Human acid ceramidase gene: novel mutations in Farber disease.
Molecular genetics and metabolism 2000;70(4):301-9.
2000: M J Santos; Scott C Henderson; Ann B Moser; H W Moser; Paul B LAZAROW
Peroxisomal ghosts are intracellular structures distinct from lysosomal compartments in Zellweger syndrome: a confocal laser scanning microscopy study.
Biology of the cell / under the auspices of the European Cell Biology Organization 2000;92(2):85-94.
2000: H Wei; Stephan Kemp; Martina C McGuinness; Ann B Moser; Kirby D Smith
Pharmacological induction of peroxisomes in peroxisome biogenesis disorders.
Annals of neurology 2000;47(3):286-96.
2000: James M Powers; D P DeCiero; M Ito; Ann B Moser; H W Moser
Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy.
Journal of neuropathology and experimental neurology 2000;59(2):89-102.
2000: Nancy Braverman; Gary Steel; Paul Lin; Ann B Moser; Hugo Moser; David Valle
PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.
Genomics 2000;63(2):181-92.
2000: MB Lachtermacher; H N Seuánez; Ann B Moser; Hugo W Moser; Kirby D Smith
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
Human mutation 2000;15(4):348-53.
1999: Brenda Joyce Kitchen; Ann B Moser; E Lowe; FRANK BALIS; BRIGITTE WIDEMANN; L Anderson; J Strong; Susan M Blaney; Stacey L Berg; Michelle O'Brien; Peter Charles Adamson
Thioguanine administered as a continuous intravenous infusion to pediatric patients is metabolized to the novel metabolite 8-hydroxy-thioguanine.
The Journal of pharmacology and experimental therapeutics 1999;291(2):870-4.
1999: James M Powers; T P Kenjarski; Ann B Moser; H W Moser
Cerebellar atrophy in chronic rhizomelic chondrodysplasia punctata: a potential role for phytanic acid and calcium in the death of its Purkinje cells.
Acta neuropathologica 1999;98(2):129-34.
1999: Mercedes Pineda; ML Girós; Frank Roels; Marc Espeel; Montse Ruiz; Ann B Moser; H W Moser; R J Wanders; C Pavia; J Conill; A Aracil; L Amat; T Pampols
Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicism.
Journal of child neurology 1999;14(7):434-9.
1999: Nancy Braverman; Paul Lin; Fabian F Moebius; Cassandra Obie; Ann B Moser; Hartmut Glossmann; W R Wilcox; D L Rimoin; M Smith; Lisa Kratz; Richard I Kelley; David Valle
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.
Nature genetics 1999;22(3):291-4.
1999: CC Chang; Sarah T South; Daniel S Warren; J Jones; Ann B Moser; Hugo W Moser; Stephen J Gould
Metabolic control of peroxisome abundance.
Journal of cell science 1999;112 ( Pt 10)():1579-90.
1999: K M Brookhyser; MH Lipson; Ann B Moser; H W Moser; R S Lachman; D L Rimoin
Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency.
Prenatal diagnosis 1999;19(4):383-5.
1999: Richard I Kelley; W G Wilcox; M Smith; Lisa Kratz; Ann B Moser; D S Rimoin
Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.
American journal of medical genetics 1999;83(3):213-9.
1999: Lelita T Braiterman; Paul A Watkins; Ann B Moser; Kirby D Smith
Peroxisomal very long chain fatty acid beta-oxidation activity is determined by the level of adrenodeukodystrophy protein (ALDP) expression.
Molecular genetics and metabolism 1999;66(2):91-9.
1999: Ann B Moser; D S Jones; Gerald V Raymond; Hugo W Moser
Plasma and red blood cell fatty acids in peroxisomal disorders.
Neurochemical research 1999;24(2):187-97.
1999: Ann B Moser; H W Moser
The prenatal diagnosis of X-linked adrenoleukodystrophy.
Prenatal diagnosis 1999;19(1):46-8.
1999: Ann B Moser; N Kreiter; Lena Bezman; S Lu; Gerald V Raymond; Sakkubai Naidu; Hugo W Moser
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.
Annals of neurology 1999;45(1):100-10.
1998: E R Elias; M Mobassaleh; A K Hajra; Ann B Moser
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency.
American journal of medical genetics 1998;80(3):223-6.
1998: Stephan Kemp; H M Wei; Jyh-Feng Lu; Lelita T Braiterman; Martina C McGuinness; Ann B Moser; Paul A Watkins; Kirby D Smith
Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.
Nature medicine 1998;4(11):1261-8.
1998: H W Moser; Ann B Moser; K K Frayer; W Chen; J D Schulman; B P O'Neill; Y Kishimoto
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids. 1981.
Neurology 1998;51(2):334 and 9 pages following.
1998: R Périchon; Ann B Moser; William C Wallace; Steven C Cunningham; George S Roth; H W Moser
Peroxisomal disease cell lines with cellular plasmalogen deficiency have impaired muscarinic cholinergic signal transduction activity and amyloid precursor protein secretion.
Biochemical and biophysical research communications 1998;248(1):57-61.
1998: Lelita T Braiterman; S Zheng; Paul A Watkins; M T Geraghty; G Johnson; Martina C McGuinness; Ann B Moser; Kirby D Smith
Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
Human molecular genetics 1998;7(2):239-47.
1997: Jyh-Feng Lu; Ann M Lawler; Paul A Watkins; James M Powers; Ann B Moser; Hugo W Moser; Kirby D Smith
A mouse model for X-linked adrenoleukodystrophy.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(17):9366-71.
1997: Narasimhan Nagan; Amiya K Hajra; Arun K Das; H W Moser; Ann B Moser; Paul B LAZAROW; P E Purdue; Raphael A Zoeller
A fibroblast cell line defective in alkyl-dihydroxyacetone phosphate synthase: a novel defect in plasmalogen biosynthesis.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(9):4475-80.
1997: Nancy Braverman; Gary Steel; Cassandra Obie; Ann B Moser; Hugo Moser; Stephen J Gould; David Valle
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.
Nature genetics 1997;15(4):369-76.
1997: Christopher Cunniff; Lisa Kratz; Ann B Moser; M R Natowicz; Richard I Kelley
Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.
American journal of medical genetics 1997;68(3):263-9.
1996: H W Moser; Ann B Moser
Peroxisomal disorders: overview.
Annals of the New York Academy of Sciences 1996;804():427-41.
1996: M R Natowicz; J E Evans; Richard I Kelley; Ann B Moser; Paul A Watkins; H W Moser
Urinary bile acids and peroxisomal bifunctional enzyme deficiency.
American journal of medical genetics 1996;63(2):356-62.
1996: Thomas S Kickler; W H Zinkham; Ann B Moser; J Shankroff; J Borel; H Moser
Effect of erucic acid on platelets in patients with adrenoleukodystrophy.
Biochemical and molecular medicine 1996;57(2):125-33.
1996: H W Moser; Ann B Moser
Very long-chain fatty acids in diagnosis, pathogenesis, and therapy of peroxisomal disorders.
Lipids 1996;31 Suppl():S141-4.
1996: Walter E Kaufmann; CHRISTIANE THEDA; Sakkubai Naidu; Paul A Watkins; Ann B Moser; Hugo W Moser
Neuronal migration abnormality in peroxisomal bifunctional enzyme defect.
Annals of neurology 1996;39(2):268-71.
1995: T Levade; H W Moser; A H Fensom; K Harzer; Ann B Moser; R Salvayre
Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells.
Journal of the neurological sciences 1995;134(1-2):108-14.
1995: Paul A Watkins; Martina C McGuinness; Gerald V Raymond; B A Hicks; Jeanne Sisk; Ann B Moser; Hugo W Moser
Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies.
Annals of neurology 1995;38(3):472-7.
1995: Paul A Watkins; Stephen J Gould; M A Smith; Lelita T Braiterman; H M Wei; F Kok; Ann B Moser; Hugo W Moser; Kirby D Smith
Altered expression of ALDP in X-linked adrenoleukodystrophy.
American journal of human genetics 1995;57(2):292-301.
1995: Ann B Moser; M Rasmussen; Sakkubai Naidu; Paul A Watkins; Martina C McGuinness; A K Hajra; G Chen; Gerald V Raymond; A Liu; D Gordon
Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.
The Journal of pediatrics 1995;127(1):13-22.
1995: M L Slawecki; G Dodt; Steven J Steinberg; Ann B Moser; Hugo W Moser; Stephen J Gould
Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.
Journal of cell science 1995;108 ( Pt 5)():1817-29.
1995: Thierry Levade; M C Tempesta; H W Moser; A H Fensom; K Harzer; Ann B Moser; Robert Salvayre
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.
Biochemical and molecular medicine 1995;54(2):117-25.
1995: Gabriele Dodt; Nancy Braverman; C Wong; Ann B Moser; Hugo W Moser; Paul A Watkins; David Valle; Stephen J Gould
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
Nature genetics 1995;9(2):115-25.
1994: M Rasmussen; Ann B Moser; J Borel; S Khangoora; Hugo W Moser
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).
Neurochemical research 1994;19(8):1073-82.
1994: M Kornfeld; Ann B Moser; H W Moser; B Kleinschmidt-DeMasters; K Nolte; A Phelps
Solvent vapor abuse leukoencephalopathy. Comparison to adrenoleukodystrophy.
Journal of neuropathology and experimental neurology 1994;53(4):389-98.
1994: Christopher J Danpure; P Fryer; S Griffiths; K M Guttridge; P R Jennings; J Allsop; Ann B Moser; Sakkubai Naidu; H W Moser; M MacCollin
Cytosolic compartmentalization of hepatic alanine:glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism.
Journal of inherited metabolic disease 1994;17(1):27-40.
1993: David A Paul; L S Goldsmith; D K Miles; Ann B Moser; Alfred Spiro; W D Grover
Neonatal adrenoleukodystrophy presenting as infantile progressive spinal muscular atrophy.
Pediatric neurology 1993;9(6):496-7.
1993: William B Rizzo; D A Craft; L L Judd; H W Moser; Ann B Moser
Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata.
Biochemical medicine and metabolic biology 1993;50(1):93-102.
1993: M J Santos; Ann B Moser; H Drwinga; Hugo W Moser; Paul B LAZAROW
Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7.
Pediatric research 1993;33(5):441-4.
1993: CHRISTIANE THEDA; R C Woody; Sakkubai Naidu; Ann B Moser; Hugo W Moser
Increased very long chain fatty acids in patients on a ketogenic diet: a cause of diagnostic confusion.
The Journal of pediatrics 1993;122(5 Pt 1):724-6.
1993: Martina C McGuinness; Ann B Moser; B T Poll-The; Paul A Watkins
Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation.
Biochemical medicine and metabolic biology 1993;49(2):228-42.
1992: J M Powers; Y Liu; Ann B Moser; H W Moser
The inflammatory myelinopathy of adreno-leukodystrophy: cells, effector molecules, and pathogenetic implications.
Journal of neuropathology and experimental neurology 1992;51(6):630-43.
1992: CHRISTIANE THEDA; Ann B Moser; J M Powers; Hugo W Moser
Phospholipids in X-linked adrenoleukodystrophy white matter: fatty acid abnormalities before the onset of demyelination.
Journal of the neurological sciences 1992;110(1-2):195-204.
1992: Raphael A Zoeller; S Rangaswamy; H Herscovitz; W B Rizzo; Amiya K Hajra; Arun K Das; Hugo W Moser; Ann B Moser; Paul B LAZAROW; M J Santos
Mutants in a macrophage-like cell line are defective in plasmalogen biosynthesis, but contain functional peroxisomes.
The Journal of biological chemistry 1992;267(12):8299-306.
1992: M J Santos; S Hoefler; Ann B Moser; Hugo W Moser; Paul B LAZAROW
Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome.
Journal of cellular physiology 1992;151(1):103-12.
1992: Hugo W Moser; Ann B Moser; Kirby D Smith; A Bergin; J Borel; J Shankroff; O Colin Stine; C Merette; J Ott; W Krivit
Adrenoleukodystrophy: phenotypic variability and implications for therapy.
Journal of inherited metabolic disease 1992;15(4):645-64.
1991: Gerald Hoefler; Eduard Paschke; S Hoefler; Ann B Moser; Hugo W Moser
Photosensitized killing of cultured fibroblasts from patients with peroxisomal disorders due to pyrene fatty acid-mediated ultraviolet damage.
The Journal of clinical investigation 1991;88(6):1873-9.
1991: H W Moser; Ann B Moser; Sakkubai Naidu; A Bergin
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.
Developmental neuroscience 1991;13(4-5):254-61.
1990: M MacCollin; D C De Vivo; Ann B Moser; M Beard
Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis.
Annals of neurology 1990;28(6):833-6.
1990: Martina C McGuinness; Ann B Moser; Hugo W Moser; Paul A Watkins
Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids.
Biochemical and biophysical research communications 1990;172(1):364-9.
1990: T D Wardinsky; Roberta A Pagon; B R Powell; B McGillivray; M Stephan; Jonathan (Jon) Zonana; Ann B Moser
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.
Clinical genetics 1990;38(2):84-93.
1990: Hugo W Moser; Ann B Moser; W W Chen; Paul A Watkins
Adrenoleukodystrophy and Zellweger syndrome.
Progress in clinical and biological research 1990;321():511-35.
1989: P A Cuddon; R J Higgins; Ian D Duncan; S P Miller; J M Parent; Ann B Moser
Polyneuropathy in feline Niemann-Pick disease.
Brain : a journal of neurology 1989;112 ( Pt 6)():1429-43.
1989: Adelbert A Roscher; S Hoefler; Gerald Hoefler; Eduard Paschke; F Paltauf; Ann B Moser; H Moser
Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients.
Pediatric research 1989;26(1):67-72.
1989: J M Powers; R C Tummons; V S Caviness; Ann B Moser; H W Moser
Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome.
Journal of neuropathology and experimental neurology 1989;48(3):270-89.
1989: Paul A Watkins; W W Chen; C J Harris; Gerald Hoefler; S Hoefler; D C Blake; A Balfe; Richard I Kelley; Ann B Moser; M E Beard
Peroxisomal bifunctional enzyme deficiency.
The Journal of clinical investigation 1989;83(3):771-7.
1988: P E Juniewicz; S Pallante Morell; Ann B Moser; L L Ewing
Identification of phytoestrogens in the urine of male dogs.
Journal of steroid biochemistry 1988;31(6):987-94.
1988: S Hoefler; Gerald Hoefler; Ann B Moser; Paul A Watkins; W W Chen; Hugo W Moser
Prenatal diagnosis of rhizomelic chondrodysplasia punctata.
Prenatal diagnosis 1988;8(8):571-6.
1988: M A Zarbin; W Richard Green; Ann B Moser; CAROL TIFFANY
Increased levels of ceramide in the retina of a patient with Farber's disease.
Archives of ophthalmology 1988;106(9):1163.
1988: Paul B LAZAROW; G M Small; M Santos; H Shio; Ann B Moser; H Moser; A Esterman; V Black; J Dancis
Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis.
Pediatric research 1988;24(1):63-7.
1988: Sakkubai Naidu; Gerald Hoefler; Paul A Watkins; W W Chen; Ann B Moser; S Hoefler; N E Rance; J M Powers; M Beard; W Richard Green
Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.
Neurology 1988;38(7):1100-7.
1988: Gerald Hoefler; S Hoefler; Paul A Watkins; W W Chen; Ann B Moser; V Baldwin; B McGillivary; J Charrow; J M Friedman; L Rutledge
Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
The Journal of pediatrics 1988;112(5):726-33.
1988: Sakkubai Naidu; Ann B Moser; H W Moser
Phenotypic and genotypic variability of generalized peroxisomal disorders.
Pediatric neurology 1988;4(1):5-12.
1987: Ann B Moser; J Borel; A Odone; Sakkubai Naidu; David R Cornblath; D B Sanders; Hugo W Moser
A new dietary therapy for adrenoleukodystrophy: biochemical and preliminary clinical results in 36 patients.
Annals of neurology 1987;21(3):240-9.
1987: Thiravat Hemachudha; Diane E Griffin; J J Giffels; Richard T Johnson; Ann B Moser; Praphan Phanuphak
Myelin basic protein as an encephalitogen in encephalomyelitis and polyneuritis following rabies vaccination.
The New England journal of medicine 1987;316(7):369-74.
1987: R J Wanders; R B Schutgens; G Schrakamp; J M Tager; H Van den Bosch; Ann B Moser; H W Moser
Neonatal adrenoleukodystrophy. Impaired plasmalogen biosynthesis and peroxisomal beta-oxidation due to a deficiency of catalase-containing particles (peroxisomes) in cultured skin fibroblasts.
Journal of the neurological sciences 1987;77(2-3):331-40.
1987: J M Powers; H W Moser; Ann B Moser; C K Ma; Stanton Elias; R A Norum
Pathologic findings in adrenoleukodystrophy heterozygotes.
Archives of pathology & laboratory medicine 1987;111(2):151-3.
1987: J M Powers; R C Tummons; Ann B Moser; H W Moser; D S Huff; Richard I Kelley
Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome.
Acta neuropathologica 1987;73(4):333-43.
1986: Ned Sacktor; John W Griffin; Ann B Moser; H W Moser
Effects of subperineurial injections of very-long-chain and medium-chain fatty acids into rat sciatic nerve.
Neurochemical pathology 1986;5(1):71-83.
1986: Richard I Kelley; Nabanita S Datta; W B Dobyns; Amiya K Hajra; Ann B Moser; M J Noetzel; E H Zackai; H W Moser
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes.
American journal of medical genetics 1986;23(4):869-901.
1986: M E Beard; Ann B Moser; V Sapirstein; E Holtzman
Peroxisomes in infantile phytanic acid storage disease: a cytochemical study of skin fibroblasts.
Journal of inherited metabolic disease 1986;9(4):321-34.
1985: Diane E Griffin; H W Moser; Q Mendoza; T R Moench; S O'Toole; Ann B Moser
Identification of the inflammatory cells in the central nervous system of patients with adrenoleukodystrophy.
Annals of neurology 1985;18(6):660-4.
1985: J M Powers; H W Moser; Ann B Moser; J K Upshur; B F Bradford; S G Pai; P H Kohn; J Frias; CAROL TIFFANY
Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses.
Human pathology 1985;16(6):610-20.
1985: J A Arias; Ann B Moser; S L Goldfischer
Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders.
The Journal of cell biology 1985;100(5):1789-92.
1985: Amiya K Hajra; Nabanita S Datta; L G Jackson; Ann B Moser; H W Moser; J W Larsen; J Powers
Prenatal diagnosis of Zellweger cerebrohepatorenal syndrome.
The New England journal of medicine 1985;312(7):445-6.
1985: J Boué; I Oberle; R Heilig; J L Mandel; Ann B Moser; H Moser; J W Larsen; Y Dumez; A Boué
First trimester prenatal diagnosis of adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis to a DNA probe.
Human genetics 1985;69(3):272-4.
1984: H W Moser; Ann B Moser; Inderjit Singh; B P O'Neill
Adrenoleukodystrophy: survey of 303 cases: biochemistry, diagnosis, and therapy.
Annals of neurology 1984;16(6):628-41.
1984: H W Moser; P J Tutschka; Frank R Brown; Ann B Moser; A M Yeager; Inderjit Singh; S A Mark; A A Kumar; J M McDonnell; Charles L White
Bone marrow transplant in adrenoleukodystrophy.
Neurology 1984;34(11):1410-7.
1984: F J Goulding; Ann B Moser
Xanthogranulomatous pyelonephritis with associated renal cell carcinoma.
Urology 1984;23(4):385-6.
1984: Robert D Burk; David Valle; George H Thomas; C Miller; Ann B Moser; H Moser; K N Rosenbaum
Early manifestations of multiple sulfatase deficiency.
The Journal of pediatrics 1984;104(4):574-8.
1984: S E Antonarakis; David Valle; Hugo W Moser; Ann B Moser; S J Qualman; W H Zinkham
Phenotypic variability in siblings with Farber disease.
The Journal of pediatrics 1984;104(3):406-9.
1983: Frank R Brown; W W Chen; Daniel A Kirschner; K L Frayer; J M Powers; Ann B Moser; H W Moser
Myelin membrane from adrenoleukodystrophy brain white matter--biochemical properties.
Journal of neurochemistry 1983;41(2):341-8.
1982: Frank R Brown; A J McAdams; J W Cummins; R Konkol; Inderjit Singh; Ann B Moser; H W Moser
Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: similarities in phenotype and accumulation of very long chain fatty acids.
The Johns Hopkins medical journal 1982;151(6):344-51.
1982: J M Powers; H W Moser; Ann B Moser; Herbert H Schaumburg
Fetal adrenoleukodystrophy: the significance of pathologic lesions in adrenal gland and testis.
Human pathology 1982;13(11):1013-9.
1982: Frank R Brown; M A Van Duyn; Ann B Moser; J D Schulman; W B Rizzo; R D Snyder; J V Murphy; S Kamoshita; Claude J Migeon; H W Moser
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.
The Johns Hopkins medical journal 1982;151(4):164-72.
1982: H W Moser; Ann B Moser; J M Powers; H M Nitowsky; Herbert H Schaumburg; R A Norum; Barbara R Migeon
The prenatal diagnosis of adrenoleukodystrophy. Demonstration of increased hexacosanoic acid levels in cultured amniocytes and fetal adrenal gland.
Pediatric research 1982;16(3):172-5.
1981: Inderjit Singh; H W Moser; Ann B Moser; Y Kishimoto
Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex.
Biochemical and biophysical research communications 1981;102(4):1223-9.
1981: H W Moser; Ann B Moser; K K Frayer; W Chen; J D Schulman; B P O'Neill; Y Kishimoto
Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids.
Neurology 1981;31(10):1241-9.
1981: Barbara R Migeon; H W Moser; Ann B Moser; Joyce Axelman; D Sillence; R A Norum
Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.
Proceedings of the National Academy of Sciences of the United States of America 1981;78(8):5066-70.
1981: Frank R Brown; H Shimizu; J M McDonald; Ann B Moser; P Marquis; W W Chen; H W Moser
Auditory evoked brainstem response and high-performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy.
Neurology 1981;31(8):980-5.
1981: W W Chen; Ann B Moser; H W Moser
Role of lysosomal acid ceramidase in the metabolism of ceramide in human skin fibroblasts.
Archives of biochemistry and biophysics 1981;208(2):444-55.
1980: H W Moser; Ann B Moser; N Kawamura; Barbara R Migeon; B P O'Neill; C Fenselau; Y Kishimoto
Adrenoleukodystrophy: studies of the phenotype, genetics and biochemistry.
The Johns Hopkins medical journal 1980;147(6):217-24.
1980: H W Moser; Ann B Moser; N Kawamura; J Murphy; Kunihiko Suzuki; Herbert H Schaumburg; Y Kishimoto
Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts.
Annals of neurology 1980;7(6):542-9.
1980: B D Trapp; L J McIntyre; R H Quarles; G Nonaka; Ann B Moser; H W Moser; H F Webster
Biochemical characterization of myelin isolated from the central nervous system of Xenopus tadpoles.
Journal of neurochemistry 1980;34(5):1241-6.
1980: R E Pyeritz; David Ullman; Ann B Moser; H G Braine; H W Moser
Plasma exchange removes glycosphingolipid in Fabry disease.
American journal of medical genetics 1980;7(3):301-7.
1978: N Kawamura; Ann B Moser; H W Moser; T Ogino; K Suzuki; Herbert H Schaumburg; A Milunsky; J Murphy; Y Kishimoto
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients.
Biochemical and biophysical research communications 1978;82(1):114-20.
1967: H W Moser; Ann B Moser; Guy M McKhann
The dynamics of a lipidosis. Turnover of sulfatide, steroid sulfate, and polysaccharide sulfate in metachromatic leukodystrophy.
Archives of neurology 1967;17(5):494-511.
1967: H Moser; Ann B Moser; Guy M McKhann
Evaluation of the metabolic defect in metachromatic leukodystrophy (MLD).
Transactions of the American Neurological Association 1967;92():171-4.
1966: H W Moser; Ann B Moser; J C Orr
Preliminary observations on the occurrence of cholesterol sulfate in man.
Biochimica et biophysica acta 1966;116(1):146-55.