Forbes D Porter

Forbes D Porter

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Forbes D Porter

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Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner.

Mol Genet Metab 2019 Oct 17. Epub 2019 Oct 17.

Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD 20892, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.10.004DOI Listing
October 2019

Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1.

CNS Drugs 2019 Jul;33(7):677-683

Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Development, National Institutes of Health, 10 Center Drive, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s40263-019-00642-2DOI Listing
July 2019

Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.

Mol Genet Metab 2019 04 15;126(4):466-469. Epub 2019 Feb 15.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6535124PMC
April 2019

Early Indicators of Creatine Transporter Deficiency.

J Pediatr 2019 03 20;206:283-285. Epub 2018 Dec 20.

National Institute of Mental Health, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1016/j.jpeds.2018.11.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6693671PMC
March 2019

Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.

Mol Genet Metab 2019 02 24;126(2):183-187. Epub 2018 Aug 24.

Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365165PMC
February 2019

Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for screening of candidate therapeutic compounds.

Dis Model Mech 2018 08 15;11(9). Epub 2018 Aug 15.

Section on Molecular Dysmorphology, Division of Translational Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA

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http://dx.doi.org/10.1242/dmm.034165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176986PMC
August 2018

Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention.

Hum Mol Genet 2018 06;27(12):2076-2089

Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, , Bethesda, MD 20879, USA.

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http://dx.doi.org/10.1093/hmg/ddy112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985727PMC
June 2018

Gastrointestinal Tract Pathology in a BALB/c Niemann-Pick Disease Type C1 Null Mouse Model.

Dig Dis Sci 2018 04 22;63(4):870-880. Epub 2018 Jan 22.

Department of Health and Human Services, National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10620-018-4914-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292218PMC
April 2018

Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin.

Pediatr Neurol 2018 03 8;80:24-34. Epub 2018 Jan 8.

Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois; Department of Cell and Molecular Medicine, Rush University Medical Center, Chicago, Illinois.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857219PMC
March 2018

Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2018 02 11;176(2):386-390. Epub 2017 Dec 11.

Division of Translational Research, Eunice Kennedy Shriver National Institute of Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309987PMC
February 2018

Vitamin D levels in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2017 Oct 10;173(10):2577-2583. Epub 2017 Aug 10.

Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603413PMC
October 2017

Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann-Pick disease type C1 patients.

Am J Med Genet A 2017 04;173(4):1038-1040

Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38104DOI Listing
April 2017

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.

Genet Med 2017 03 11;19(3):297-305. Epub 2016 Aug 11.

Section on Molecular Dysmorphology, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303568PMC
March 2017

Trifunctional lipid probes for comprehensive studies of single lipid species in living cells.

Proc Natl Acad Sci U S A 2017 02 2;114(7):1566-1571. Epub 2017 Feb 2.

Cell Biology and Biophysics Unit, European Molecular Biology Laboratory, 69117 Heidelberg, Germany;

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http://dx.doi.org/10.1073/pnas.1611096114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320957PMC
February 2017

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1.

Hum Mol Genet 2017 01;26(1):52-64

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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http://hmg.oxfordjournals.org/content/early/2016/10/24/hmg.d
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http://dx.doi.org/10.1093/hmg/ddw367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6075521PMC
January 2017

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.

Orphanet J Rare Dis 2016 12 1;11(1):161. Epub 2016 Dec 1.

Diabetic Cardiovascular Disease Center, Washington University School of Medicine, Box 8086, 660 S. Euclid Ave, St. Louis, MO, 63110, USA.

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http://dx.doi.org/10.1186/s13023-016-0540-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131440PMC
December 2016

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1.

Diseases 2016 Sep 8;4(3). Epub 2016 Sep 8.

National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/diseases4030029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456286PMC
September 2016

Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients.

Am J Med Genet A 2016 08 5;170(8):2060-2068. Epub 2016 May 5.

Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/ajmg.a.37720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5028137PMC
August 2016

Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.

Mol Genet Metab 2015 Sep-Oct;116(1-2):75-9. Epub 2015 Jul 15.

Department of Pediatrics, Division of Medical Genetics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2015.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633280PMC
July 2016

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.

Nat Med 2016 Apr 21;22(4):388-96. Epub 2016 Mar 21.

Program in Developmental Endocrinology and Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/nm.4067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823163PMC
April 2016

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

J Neurodev Disord 2016 5;8:12. Epub 2016 Apr 5.

Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892 USA.

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http://dx.doi.org/10.1186/s11689-016-9145-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822234PMC
April 2016

Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1.

Dev Med Child Neurol 2016 Mar 19;58(3):262-9. Epub 2015 Nov 19.

Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/dmcn.12970DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760874PMC
March 2016

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Genet Med 2016 Jan 12;18(1):41-8. Epub 2015 Mar 12.

Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2015.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486368PMC
January 2016

Intracellular sphingosine releases calcium from lysosomes.

Elife 2015 Nov 27;4. Epub 2015 Nov 27.

Cell Biology and Biophysics Unit, European Molecular Biology Laboratory, Heidelberg, Germany.

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http://dx.doi.org/10.7554/eLife.10616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744193PMC
November 2015

Cholesterol Biosynthesis and Trafficking in Cortisol-Producing Lesions of the Adrenal Cortex.

J Clin Endocrinol Metab 2015 Oct 23;100(10):3660-7. Epub 2015 Jul 23.

Sections on Endocrinology and Genetics (E.L., A.H., C.T., A.A., A.S.K., C.A.S.) and Molecular Dysmorphology (C.A.W., F.D.P.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2015-2212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596036PMC
October 2015

An Efficient Approach to Evaluate Reporter Ion Behavior from MALDI-MS/MS Data for Quantification Studies Using Isobaric Tags.

J Proteome Res 2015 Oct 3;14(10):4169-78. Epub 2015 Sep 3.

Biomedical Mass Spectrometry Facility, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS , 31 Center Drive, Bethesda, Maryland 20892, United States.

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http://dx.doi.org/10.1021/acs.jproteome.5b00254DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571863PMC
October 2015

A validated LC-MS/MS assay for quantification of 24(S)-hydroxycholesterol in plasma and cerebrospinal fluid.

J Lipid Res 2015 Jun 12;56(6):1222-33. Epub 2015 Apr 12.

Diabetic Cardiovascular Disease Center, Washington University School of Medicine, St. Louis, MO 63110.

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http://dx.doi.org/10.1194/jlr.D058487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442878PMC
June 2015

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

Orphanet J Rare Dis 2015 Jun 17;10:78. Epub 2015 Jun 17.

Albrecht-Kossel-Institute for Neuroregeneration, Medical University of Rostock, Gehlsheimer Str. 20, 18147, Rostock, Germany.

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http://dx.doi.org/10.1186/s13023-015-0274-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479076PMC
June 2015

Rescue of an in vitro neuron phenotype identified in Niemann-Pick disease, type C1 induced pluripotent stem cell-derived neurons by modulating the WNT pathway and calcium signaling.

Stem Cells Transl Med 2015 Mar 30;4(3):230-8. Epub 2015 Jan 30.

National Institute of Arthritis and Musculoskeletal and Skin Diseases, NeuroTherapeutics Development Unit, National Institute for Neurological Diseases and Stroke, Genetic Disease Research Branch, National Human Genome Research Institute, Eunice Kennedy Shriver National Institute for Child Health and Human Development, and Center for Regenerative Medicine, National Institutes of Health, Bethesda, Maryland, USA

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http://dx.doi.org/10.5966/sctm.2014-0127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339848PMC
March 2015

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Expert Opin Orphan Drugs 2015 Mar;3(3):267-280

National Institute of Child Health and Human Development, Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, 10 Center Drive, Bld 10, CRC, Rm 2571, Bethesda, MD 20892, .

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http://www.tandfonline.com/doi/full/10.1517/21678707.2015.10
Publisher Site
http://dx.doi.org/10.1517/21678707.2015.1014472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343216PMC
March 2015

Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1.

Pediatr Neurol 2014 Nov 28;51(5):669-674.e5. Epub 2014 Jul 28.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.07.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696056PMC
November 2014

Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight.

PLoS One 2012 29;7(10):e47845. Epub 2012 Oct 29.

Program in Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0047845PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3483225PMC
August 2014

Auditory phenotype of Niemann-Pick disease, type C1.

Ear Hear 2014 Jan-Feb;35(1):110-7

1Department of Health and Human Services, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD; 2Department of Hearing and Speech Sciences, University of Maryland College Park, College Park, MD; 3Department of Health and Human Services, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD; 4Department of Human Development and Quantitative Methodology, University of Maryland College Park, College Park, MD.

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http://dx.doi.org/10.1097/AUD.0b013e3182a362b8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895917PMC
August 2014

Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.

J Assoc Res Otolaryngol 2014 Aug 17;15(4):529-41. Epub 2014 May 17.

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, 20892, USA,

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http://dx.doi.org/10.1007/s10162-014-0459-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141427PMC
August 2014

Variations in EEG discharges predict ADHD severity within individual Smith-Lemli-Opitz patients.

Neurology 2014 Jul 11;83(2):151-9. Epub 2014 Jun 11.

From the EEG Section, NINDS (J.M.S.), Medical Genetics Branch, National Human Genome Research Institute (S.E.S., A.L.G.), and Program on Developmental Endocrinology and Genetics, NICHD (C.A.W.), NIH, Bethesda; Departments of Child and Adolescent Psychiatry (D.C.L., E.T.) and Neurology and Developmental Medicine (W.H.T., J.B.E.), Kennedy Krieger Institute, Baltimore; Departments of Neurology (W.H.T., J.B.E.) and Psychiatry and Behavioral Sciences (E.T.), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Pediatric Neurology (W.H.T., F.D.P.), Penn State Hershey Children's Hospital, Hershey, PA; Department of Biostatistics (B.S.C.), Johns Hopkins University School of Public Health, Baltimore, MD; Department of Neurology (A.L.G.), Children's National Medical Center; and George Washington University of the Health Sciences (A.L.G.), Washington, DC.

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http://dx.doi.org/10.1212/WNL.0000000000000565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117167PMC
July 2014

A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.

Mol Genet Metab 2013 Sep-Oct;110(1-2):188-90. Epub 2013 Jun 21.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.06.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3775472PMC
March 2014

Altered transition metal homeostasis in Niemann-Pick disease, type C1.

Metallomics 2014 Mar 16;6(3):542-53. Epub 2013 Dec 16.

Oxidation Biology Unit, The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Level 4, Kenneth Myer Building, Parkville, Victoria 3010, Australia.

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http://dx.doi.org/10.1039/c3mt00308fDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4178950PMC
March 2014

Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.

J Inherit Metab Dis 2014 Jan 8;37(1):83-92. Epub 2013 May 8.

Program in Developmental Endocrinology and Genetics, Section on Molecular Dysmorphology, NICHD, NIH, DHHS, Bld. 10, Rm. 9D42, 10 Center Dr, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s10545-013-9610-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3877698PMC
January 2014

Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2013 Oct 5;161A(10):2407-19. Epub 2013 Aug 5.

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.36096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787998PMC
October 2013

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.

Hum Mol Genet 2013 Sep 10;22(17):3508-23. Epub 2013 May 10.

Department of Health and Human Services, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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http://hmg.oxfordjournals.org/content/early/2013/05/09/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddt206
Publisher Site
http://dx.doi.org/10.1093/hmg/ddt206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736870PMC
September 2013

Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.

Pediatr Neurol 2013 Aug;49(2):107-12

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.03.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3718481PMC
August 2013

Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type C.

JIMD Rep 2012 28;3:45-52. Epub 2011 Sep 28.

Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy, University of Gothenburg, Mölndal, Sweden.

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http://link.springer.com/10.1007/8904_2011_47
Publisher Site
http://dx.doi.org/10.1007/8904_2011_47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509856PMC
February 2013

Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures.

J Child Neurol 2012 Dec 28;27(12):1541-6. Epub 2012 Feb 28.

Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA.

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http://journals.sagepub.com/doi/10.1177/0883073812437243
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http://dx.doi.org/10.1177/0883073812437243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3508074PMC
December 2012

Growth charts for individuals with Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2012 Nov 21;158A(11):2707-13. Epub 2012 May 21.

National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.35376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427420PMC
November 2012

Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.

Hum Mol Genet 2012 Aug 22;21(16):3632-46. Epub 2012 May 22.

Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, US Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/dds193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406758PMC
August 2012

Adrenal function in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2011 Nov 11;155A(11):2732-8. Epub 2011 Oct 11.

Program in Developmental Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.34271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488380PMC
November 2011

Oxidative stress in Niemann-Pick disease, type C.

Mol Genet Metab 2010 Oct-Nov;101(2-3):214-8. Epub 2010 Jul 27.

Program in Developmental Endocrinology and Genetics, NICHD, NIH, DHHS, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.06.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2950258PMC
January 2011

Malformation syndromes caused by disorders of cholesterol synthesis.

J Lipid Res 2011 Jan 7;52(1):6-34. Epub 2010 Oct 7.

Program in Developmental Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1194/jlr.R009548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2999931PMC
January 2011

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.

J Steroid Biochem Mol Biol 2010 Nov 26;122(5):303-9. Epub 2010 Aug 26.

Children's Hospital Oakland Research Institute, 5700 Martin Luther King Jr Way, Oakland, CA 94609, United States.

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http://dx.doi.org/10.1016/j.jsbmb.2010.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2966472PMC
November 2010

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.

Sci Transl Med 2010 Nov;2(56):56ra81

Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1126/scitranslmed.3001417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170139PMC
November 2010

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2010 Aug;152A(8):2094-8

Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, DHHS, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/ajmg.a.33540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3027211PMC
August 2010

Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.

Mol Cell Proteomics 2010 Jul 19;9(7):1461-75. Epub 2010 Mar 19.

NICHD, National Institutes of Health, United States Department of Health and Human Services, Bethesda, Maryland 20892, USA.

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http://www.mcponline.org/lookup/doi/10.1074/mcp.M900548-MCP2
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http://dx.doi.org/10.1074/mcp.M900548-MCP200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2938083PMC
July 2010

Activation of Rho GTPases in Smith-Lemli-Opitz syndrome: pathophysiological and clinical implications.

Hum Mol Genet 2010 Apr 12;19(7):1347-57. Epub 2010 Jan 12.

Section on Molecular Dysmorphology, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddq011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838542PMC
April 2010

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2010 Jan;152A(1):91-5

Department of Psychiatry, Kennedy Krieger Institute, Baltimore, MD, USA.

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http://dx.doi.org/10.1002/ajmg.a.33148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799534PMC
January 2010

LIM homeobox transcription factors integrate signaling events that control three-dimensional limb patterning and growth.

Development 2009 Apr;136(8):1375-85

Section on Mammalian Molecular Genetics, Laboratory of Mammalian Genes and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.

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http://dev.biologists.org/cgi/doi/10.1242/dev.026476
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2687467PMC
April 2009

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome.

Hum Mol Genet 2008 Dec 5;17(23):3806-13. Epub 2008 Sep 5.

Section on Molecular Dysmorphology, Eunice Kennedy Schriver National Institute of Child Health and Human Development, National Heart, Lung and Blood Institute, NIH, DHHS, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddn278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2581429PMC
December 2008

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

Authors:
Forbes D Porter

Eur J Hum Genet 2008 May 20;16(5):535-41. Epub 2008 Feb 20.

Section on Molecular Dysmorphology, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1038/ejhg.2008.10DOI Listing
May 2008

Acute postnatal cataract formation in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2008 Jan;146A(2):208-11

Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, DHHS, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.32084DOI Listing
January 2008

Smith-Lemli-Opitz syndrome and autism spectrum disorder.

Am J Psychiatry 2007 Nov;164(11):1655-61

Center for Genetic Disorders of Cognition and Behavior, Department of Psychiatry, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, 3901 Greenspring Ave., Baltimore, MD 21211, USA.

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http://dx.doi.org/10.1176/appi.ajp.2007.07020315DOI Listing
November 2007

Cholesterol precursors and facial clefting.

Authors:
Forbes D Porter

J Clin Invest 2006 Sep;116(9):2322-5

Heritable Disorders Branch, National Institute of Child Health and Human Development, NIH, Department of Health and Human Services, Bethesda, Maryland 20892, USA.

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http://www.jci.org/articles/view/29872
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1555658PMC
September 2006

Peroxisomal cholesterol biosynthesis and Smith-Lemli-Opitz syndrome.

Biochem Biophys Res Commun 2006 Jun 25;345(1):205-9. Epub 2006 Apr 25.

Center for Brain Research, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1016/j.bbrc.2006.04.078DOI Listing
June 2006

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness.

J Exp Med 2006 May 17;203(5):1161-71. Epub 2006 Apr 17.

Molecular Inflammation Section, Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1084/jem.20051701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2121200PMC
May 2006

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature.

J Cell Sci 2006 May;119(Pt 9):1876-85

Section on Cellular Neurobiology, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.

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http://jcs.biologists.org/cgi/doi/10.1242/jcs.02906
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May 2006