Last Updated: 09/26/2026
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Found 14 publications
A Pilot Study of Bioenergetic Marker Relationships in Gulf War Illness: Phosphocreatine Recovery vs. Citric Acid Cycle Intermediates.
Journal: International journal of environmental research and public health
Published: December 29, 2020
Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 23, 2020
Randomized open-label trial of dextromethorphan in Rett syndrome.
Journal: Neurology
Published: December 29, 2016
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 10, 2016
Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.
Journal: Neurobiology of disease
Published: October 01, 2015
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Journal: Journal of medical genetics
Published: May 01, 2015
Clinical laboratory studies in Barth Syndrome.
Journal: Molecular genetics and metabolism
Published: February 17, 2014
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies.
Journal: Nature medicine
Published: August 22, 2013
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 13, 2013
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Journal: Cancer discovery
Published: November 06, 2012
Last Updated: 09/26/2026