Deficiency of subunits of complex I and mitochondrial encephalomyopathy

Takashi Ichiki, Masashi Tanaka, Morimitsu Nishikimi, +4

Annals of Neurology

Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

Masashi Tanaka, Hidekazu Ino, Kinji Ohno, +7

Biochemical and Biophysical Research Communications

Mitochondrial MyopathyLactic AcidosisMendelian DisorderMitochondrial FunctionGenetic Disorder +6

Diffuse central nervous system lupus involving white matter, basal ganglia, thalami and brainstem

Machiko Shibata, Tetsuya Kibe, Shinji Fujimoto, +4

Brain and Development

Systemic Lupus ErythematosusNeurophysiologyLupusNeuroanatomyMedicine +11

Molecular and Genetic Analyses of Two Patients with Pearson's Marrow-Pancreas Syndrome

T. Sano, Kyoko Ban, Takashi Ichiki, +4

Pediatric Research

Pancreatic CancerAutoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic Disease +7

Disproportionate Deficiency of Iron-Sulfur Clusters and Subunits of Complex I in Mitochondrial Encephalomyopathy

Takashi Ichiki, Masashi Tanaka, Masanori Kobayashi, +7

Pediatric Research

Disproportionate DeficiencyMitochondrial FunctionBiochemistryNatural SciencesMetalloprotein +8

Apparent homozygosity due to compound heterozygosity of one point mutation and an overlapping exon deletion mutation in ABCA12: A genetic diagnostic pitfall

Akitaka Shibata, Kazumitsu Sugiura, Atsushi Suzuki, +2

Journal of Dermatological Science

BiologyGenetic AnalysisExon Deletion MutationMendelian DisorderGenetic Disorder +9

Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti‐copper treatment

Yasuaki Tatsumi, Tsutomu Shinohara, Masami Imoto, +10

Hepatology Research

Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2

Toru Sakuma, Naruji Sugiyama, Takashi Ichiki, +3

Prenatal Diagnosis

Liver structures of a patient with idiopathic copper toxicosis

Hisao Hayashi, Tsutomu Shinohara, Keisuke Goto, +6

Medical Molecular Morphology

Liver StructuresHepatologyLiver PhysiologyHistopathologyGastroenterology +7

Identification of benzoylcarnitine in the urine of a patient of hyperammonemia.

Toru Sakuma, Kiyohumi Asai, Takashi Ichiki, +3

The Tohoku Journal of Experimental Medicine

UrologyBenzoate SupplementationChronic Kidney DiseasePharmacologyClinical Pharmacology +9