Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

Yukio Tanizawa, Kazuhiro Matsuda, Michinori Matsuo, +13

Diabetes

GeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene IdentificationClinical Genetics +17

The spectrum of <i>ZEB2</i> mutations causing the Mowat–Wilson syndrome in Japanese populations

Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada, +29

American Journal of Medical Genetics Part A

Quantification of serum 1,5-anhydroglucitol in uremic and diabetic patients by liquid chromatography/mass spectrometry

Takashi Niwa, Louise A. Dewald, Jun Sone, +2

Clinical Chemistry

Diabetic PatientsLiquid Chromatography/mass SpectrometryRenal FunctionBioanalysisClinical Chemistry +21

For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns

Toshinobu Matsuura, Ryuuji Hoshide, Chiaki Setoyama, +5

Human Genetics

Adjacent IntronsOtc DeficiencyMendelian DisorderGenetic DisorderGenetics +6

Human glycine decarboxylase gene ( GLDC) and its highly conserved processed pseudogene ( ψ GLDC) : their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia

M. Takayanagi, Shuichi KURE, Yasushi Sakata, +6

Human Genetics

Molecular PhysiologyProtein ExpressionBiochemistryNatural SciencesInherited Metabolic Disease +8

Comparison of high-dose and low-dose corticosteroid therapy for refractory Mycoplasma pneumoniae pneumonia in children

Toshihiko Okumura, Jun‐ichi Kawada, Masaharu Tanaka, +40

Journal of Infection and Chemotherapy

MedicineLow-dose Corticosteroid TherapyPediatricsPediatric Lung Disease

Determination of glutathionyl hemoglobin in hemodialysis patients using electrospray ionization liquid chromatography–mass spectrometry

Chika Naito, Mitsuharu Kajita, Toshimitsu Niwa

Journal of Chromatography B Biomedical Sciences and Applications

HemodialysisHemodialysis PatientsBiochemistryMedicineMass Spectrometry +9

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis

Takema Kato, Yuya Ouchi, Hidehito Inagaki, +6

Cytogenetic and Genome Research

Mechanisms Underlying ChromothripsisGeneticsGenomic MechanismMolecular BiologyMolecular Genetics +15

Novel Mutations (H337R and 238–362del) in the &lt;i&gt;CPS1&lt;/i&gt; Gene Cause Carbamoyl Phosphate Synthetase I Deficiency

Tsutomu Aoshima, Mitsuharu Kajita, Yoshitaka Sekido, +6

Human Heredity

GeneticsGenetic EpidemiologyMolecular BiologyPathologyMolecular Genetics +25

Rapid Detection of Deletion Mutations in Inherited Metabolic Diseases by Melting Curve Analysis with LightCycler

Tsutomu Aoshima, Yoshitaka Sekido, Takashi Miyazaki, +5

Clinical Chemistry