Publications by authors named "Lisa E Kratz"

21Publications

Novel gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.

BMJ Case Rep 2020 Nov 2;13(11). Epub 2020 Nov 2.

Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.

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http://dx.doi.org/10.1136/bcr-2020-236859DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7607564PMC
November 2020

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly.

Bone 2020 Dec 19;141:115601. Epub 2020 Aug 19.

CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2020.115601DOI Listing
December 2020

Elevated creatinine in a patient on IVIG-therapy.

Clin Chim Acta 2018 Nov 21;486:94-97. Epub 2018 Jul 21.

Department of Pathology, Johns Hopkins University School of Medicine, 1800 Orleans Street, Baltimore, MD 21287, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981183038
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http://dx.doi.org/10.1016/j.cca.2018.07.038DOI Listing
November 2018

2-Ethylhexanoic acid, found in common plasticizers, leads to an artificial increase in C8 acylcarnitine levels in two neonates treated with extracorporeal membrane oxygenation (ECMO).

Clin Chim Acta 2016 Oct 27;461:59-60. Epub 2016 Jul 27.

Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.cca.2016.07.023DOI Listing
October 2016

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.

Neurobiol Dis 2016 07 24;91:69-82. Epub 2016 Feb 24.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.02.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860088PMC
July 2016

Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.

Cell Rep 2015 Sep 3;12(11):1927-38. Epub 2015 Sep 3.

Molecular Therapeutics Program, Fox Chase Cancer Center, Philadelphia, PA 19111, USA; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Tatarstan 420000, Russia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.08.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581991PMC
September 2015

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.

Orphanet J Rare Dis 2014 Jun 25;9:94. Epub 2014 Jun 25.

Department of Medical Genetics, University of British Columbia, 4500 Oak St,, Vancouver, British Columbia, V6H 3N1, Canada.

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http://dx.doi.org/10.1186/1750-1172-9-94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076431PMC
June 2014

Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner.

Hepatology 2012 Jul 5;56(1):49-56. Epub 2012 Jun 5.

Duke Clinical Research Institute and Department of Gastroenterology, Duke University Medical Center, Durham, NC 27715, USA.

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http://dx.doi.org/10.1002/hep.25631DOI Listing
July 2012

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

Mol Genet Metab 2012 Mar 2;105(3):416-20. Epub 2011 Dec 2.

Department of Pediatrics at Johns Hopkins University, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.11.195DOI Listing
March 2012

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

PLoS Genet 2011 Sep 1;7(9):e1002224. Epub 2011 Sep 1.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1002224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3164675PMC
September 2011

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children.

J Inherit Metab Dis 2010 Aug 3;33(4):437-43. Epub 2010 Jun 3.

Institute of Clinical Medicine, School of Medicine, National Yang-Ming University, No. 155, Sec. 2, Linong Street, Taipei, 112, Taiwan, Republic of China.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9126
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http://link.springer.com/10.1007/s10545-010-9126-2
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http://dx.doi.org/10.1007/s10545-010-9126-2DOI Listing
August 2010

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS).

Am J Med Genet A 2007 Sep;143A(18):2129-36

Children's Hospital Oakland Research Institute, Oakland, California 94609, USA.

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http://dx.doi.org/10.1002/ajmg.a.31901DOI Listing
September 2007

Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge.

J Lipid Res 2003 Jun 1;44(6):1143-55. Epub 2003 Apr 1.

Lipid Research/Atherosclerosis Division, Department of Pediatrics, Johns Hopkins University, 550 North Broadway, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1194/jlr.M200455-JLR200DOI Listing
June 2003

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

Am J Med Genet 2002 Jun;110(2):95-102

Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.

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http://dx.doi.org/10.1002/ajmg.10510DOI Listing
June 2002