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Publications Authored by Lynne A Wolfe | PubFacts
Lynne A Wolfe

Lynne A Wolfe

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Publications by authors named "Lynne A Wolfe"

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36Publications

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Glycomics in rare diseases: from diagnosis tomechanism.

Transl Res 2019 04 23;206:5-17. Epub 2018 Oct 23.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19315244183018
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http://dx.doi.org/10.1016/j.trsl.2018.10.005DOI Listing
April 2019

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

J Allergy Clin Immunol 2017 07 4;140(1):291-294.e4. Epub 2017 Jan 4.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.12.951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496781PMC
July 2017

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

J Pediatr 2016 12 15;179:144-149.e2. Epub 2016 Sep 15.

Division of Gastroenterology, Department of Pediatrics, Feinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.

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http://dx.doi.org/10.1016/j.jpeds.2016.08.043DOI Listing
December 2016

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Brain 2016 09 24;139(Pt 9):e52. Epub 2016 Jun 24.

1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA 6 Inova Children's Hospital, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1093/brain/aww135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841196PMC
September 2016

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

J Med Genet 2016 Mar 14;53(3):180-9. Epub 2015 Dec 14.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535303PMC
March 2016

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Hum Mol Genet 2015 Jun 12;24(11):3050-7. Epub 2015 Feb 12.

Human Genetics Program, Sanford - Burnham Medical Research Institute, 10901 N. Torrey Pines Rd, La Jolla, CA 92037, USA

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http://dx.doi.org/10.1093/hmg/ddv057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424951PMC
June 2015

Congenital disorders of glycosylation and intellectual disability.

Dev Disabil Res Rev 2013 ;17(3):211-25

Genetic Nurse Practitioner, Undiagnosed Diseases Program, National Human Genome Research Institute, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ddrr.1115DOI Listing
March 2014

The elusive magic pill: finding effective therapies for mitochondrial disorders.

Neurotherapeutics 2013 Apr;10(2):320-8

Division of Child Neurology, Childrens Hospital of Pittsburgh of UPMC, Pittsburgh, PA 20892, USA.

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http://dx.doi.org/10.1007/s13311-012-0175-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625379PMC
April 2013

Kearns-Sayre syndrome presenting as isolated growth failure.

BMJ Case Rep 2013 Feb 18;2013. Epub 2013 Feb 18.

Undiagnosed Diseases Program, Office of the Director and NHGRI, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/bcr-2012-007272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604337PMC
February 2013

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.

Am J Med Genet C Semin Med Genet 2012 Nov 11;160C(4):322-8. Epub 2012 Oct 11.

Undiagnosed Diseases Program, National Institutes of Health, 10 Center DR, MSC 1205, RM# 3-2551, Bethesda, MD 20892, USA.

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http://doi.wiley.com/10.1002/ajmg.c.31345
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.31345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995744PMC
November 2012

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

J Hum Genet 2011 Jul 19;56(7):516-23. Epub 2011 May 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/jhg.2011.51DOI Listing
July 2011

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

J Inherit Metab Dis 2010 Dec 19;33 Suppl 3:S481-7. Epub 2010 Nov 19.

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1007/s10545-010-9246-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970109PMC
December 2010

Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.

Pediatrics 2007 Nov 1;120(5):e1335-40. Epub 2007 Oct 1.

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1542/peds.2007-0674DOI Listing
November 2007