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Neurobiology of Disease|February 28, 2016
Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrainAshley M Driver, Lisa E Kratz, Richard I Kelley, et al.Clinica Chimica Acta; International Journal of Clinical Chemistry|July 25, 2018
Elevated creatinine in a patient on IVIG-therapyClaire E Knezevic, Mary Ann Ness, Lisa E Kratz, et al.Bone|August 23, 2020
A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomalyMeagan Collins, Valancy Miranda, Justine Rousseau, et al.BMJ Case Reports|November 3, 2020
Novel <i>NSDHL</i> gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndromeEbner Bon Gatus Maceda, Lisa E Kratz, Veronica Marie E Ramos, et al.Journal of Lipid Research|April 3, 2003
Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challengePeter O Kwiterovich, Shirley C Chen, Donna G Virgil, et al.Molecular Genetics and Metabolism|December 27, 2011
Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophyYana Sandlers, Ann B Moser, Walter C Hubbard, et al.American Journal of Medical Genetics|July 13, 2002
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitaliaRichard I Kelley, Lisa E Kratz, Rivka L Glaser, et al.Orphanet Journal of Rare Diseases|June 26, 2014
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disordersCristina Dias, Rosemarie Rupps, Benjamin Millar, et al.Plos Genetics|September 14, 2011
Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivoRolf W Stottmann, Annick Turbe-Doan, Pamela Tran, et al.American Journal of Medical Genetics. Part A|August 21, 2007
Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)Cedric H L Shackleton, Josep Marcos, Glenn E Palomaki, et al.Pageof 3