Skip to main content

2 Result(s)

within English Remove this filter Human Genetics Remove this filter Human Physiology Remove this filter **ang-Hui **e Remove this filter Chapter Remove this filter

and

  1. No Access

    Chapter

    Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

    Recessive mutations in SLC25A1 encoding mitochondrial citrate carrier cause a rare inherited metabolic disorder, combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA), characterized by epileptic encephalopathy, res...

    Pankaj Prasun, Sarah Young, Gajja Salomons, Andrea Werneke… in JIMD Reports, Volume 19 (2015)

  2. No Access

    Chapter

    Fatty Acid Oxidation Disorders in a Chinese Population in Taiwan

    Background: Fatty acid oxidation (FAO) disorders are a heterogeneous group of inborn errors in the transportation and oxidation of fatty acids. FAO disorders were thought to be very rare in the Chi...

    Yin-Hsiu Chien, Ni-Chung Lee, Mei-Chyn Chao, Li-Chu Chen… in JIMD Reports - Volume 11 (2013)