A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.

Takahiko Saijo, Masaaki Ito, Eiji Takeda, +6

PubMed

Dynamic Changes in Serum Leptin Concentrations during the Fetal and Neonatal Periods

Junko Matsuda, Ichiro Yokota, Mitsuro Iida, +7

Pediatric Research

Dynamic ChangesPhysiologyFetal MedicineMaternal HealthDevelopmental Endocrinology +8

Intramitochondrial folding and assembly of medium-chain acyl-CoA dehydrogenase (MCAD). Demonstration of impaired transfer of K304E-variant MCAD from its complex with hsp60 to the native tetramer.

Takahiko Saijo, William J. Welch, Kay Tanaka

Journal of Biological Chemistry

Molecular BiologyMitochondrial BiogenesisProtein FoldingMitochondrial StructureMcad Deficiency +16

Isoalloxazine Ring of FAD Is Required for the Formation of the Core in the Hsp60-assisted Folding of Medium Chain Acyl-CoA Dehydrogenase Subunit into the Assembly Competent Conformation in Mitochondria

Takahiko Saijo, Kay Tanaka

Journal of Biological Chemistry

Mcad MoleculeCellular EnzymologyMitochondrial FunctionBiochemistryProtein Folding +13

1α-Hydroxyvitamin D3 Treatment of Three Patients With 1,25-Dihydroxyvitamin D-Receptor-Defect Rickets and Alopecia

Eiji Takeda, Yuichi Kuroda, Takahiko Saijo, +4

PEDIATRICS

Vitamin D-dependent RicketsMedicineCalcium LactateClinical NutritionThree Patients +7

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

Etsuo Naito, Michinori Ito, Ichiro Yokota, +7

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Aldehyde DehydrogenaseBiochemistryGenetic DisorderNatural SciencesGenetics +5

Short‐latency somatosensory evoked potentials in infantile autism: evidence of hyperactivity in the right primary somatosensory area

Masahito Miyazaki, Emiko Fujii, Takahiko Saijo, +4

Developmental Medicine & Child Neurology

Impaired tetramer assembly of variant medium-chain acyl-coenzyme A dehydrogenase with a glutamate or aspartate substitution for lysine 304 causing instability of the protein.

Ichiro Yokota, Takahiko Saijo, Jerry Vockley, +1

Journal of Biological Chemistry

GeneticsMolecular BiologyMolecular GeneticsGlutamate SubstitutionLysine 304 +17

Neonatal Outcomes in Very Preterm Infants With Severe Congenital Heart Defects: An International Cohort Study

Mikael Norman, Stellan Håkansson, Satoshi Kusuda, +362

Journal of the American Heart Association

Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex

Etsuo Naito, Ito M, Ichiro Yokota, +3

European Journal of Pediatrics

Energy MetabolismBiochemistryBioenergeticsPhysiologyMetabolism +5