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Journal of Inherited Metabolic Disease|April 13, 2020
Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fastingHiroki Otsuka, Takeshi Kimura, Yasuhiko Ago, et al.Genomics|June 1, 1994
A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasiaH J Ambrose, P J Byrd, C M McConville, et al.Journal of Human Genetics|April 12, 2020
Newborn screening of mucopolysaccharidoses: past, present, and futureNivethitha Arunkumar, Thomas J Langan, Molly Stapleton, et al.Cell Reports|September 8, 2015
miR-199a Links MeCP2 with mTOR Signaling and Its Dysregulation Leads to Rett Syndrome PhenotypesKeita Tsujimura, Koichiro Irie, Hideyuki Nakashima, et al.The Journal of Biological Chemistry|May 30, 2002
Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATMHeather Beamish, Padmini Kedar, Hideo Kaneko, et al.Endocrine Journal|January 23, 2013
Lower physical activity is a risk factor for a clustering of metabolic risk factors in non-obese and obese Japanese subjects: the Takahata studyWataru Kaino, Makoto Daimon, Satoshi Sasaki, et al.Plos One|December 6, 2016
High Serum Adiponectin Level Is a Risk Factor for Anemia in Japanese Men: A Prospective Observational Study of 1,029 Japanese SubjectsKei Kohno, Hiroto Narimatsu, Yosuke Shiono, et al.JIMD Reports|December 9, 2016
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase DeficiencyElsayed Abdelkreem, Radha Rama Devi Akella, Usha Dave, et al.Journal of Cardiology|February 8, 2014
Combination therapy of eicosapentaenoic acid and pitavastatin for coronary plaque regression evaluated by integrated backscatter intravascular ultrasonography (CHERRY study)-rationale and designTetsu Watanabe, Takuya Miyamoto, Takehiko Miyasita, et al.Diabetes Research and Clinical Practice|November 14, 2012
High levels of very long-chain saturated fatty acid in erythrocytes correlates with atherogenic lipoprotein profiles in subjects with metabolic syndromeRie Matsumori, Tetsuro Miyazaki, Kazunori Shimada, et al.Pageof 123