Kidney triglyceride accumulation in the fasted mouse is dependent upon serum free fatty acids [PDF]
, 2017 Abumrad, Nada A. +2 more
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Primary systemic carnitine deficiency: Phenotypic variability, diagnostic challenges, and long‐term outcomes [PDF]
Eymen Pınar +6 more
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A rare case of Mitochondrial Fatty Acid Oxidation Defect- Systemic Primary Carnitine Deficiency
, 2016 Dr Manisha Garg +4 more
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Endothelial cell CD36 optimizes tissue fatty acid uptake [PDF]
, 2018 Abumrad, Nada A +5 more
core +1 more source
[Genetic diagnosis of 10 neonates with primary carnitine deficiency].
, 2017 Jianqiang Tan +5 more
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Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report [PDF]
, 2011 Irene De Biase +5 more
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Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency [PDF]
, 2000 Ertan Mayatepek +6 more
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First Case Report of Primary Carnitine Deficiency Manifested as Intellectual Disability and Autism Spectrum Disorder. [PDF]
Brain Sci, 2019 Guevara-Campos J +3 more
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A National Assessment of the Newborn Screening Workforce for Metabolic Conditions, Phase Two Report [PDF]
, 2012 McGrath, Robert J. +1 more
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