Interstitial Lung Disease in Childhood: Clinical and Genetic Aspects

Por Kitazawa, Hiroshi, Kure, Shigeo
Publicado no Clin Med Insights Circ Respir Pulm Med (2015)

Visualization of Thrombosis on a Prosthetic Pulmonary Valve Using Electrocardiogram-Gated Multidetector Computed Tomography

Por Kakizaki, Shuhei, Tazawa, Seiichi, Kure, Shigeo, Saiki, Yoshikatsu
Publicado no Thorac Cardiovasc Surg Rep (2014)

Successful Treatment of an Infant with Left Ventricular Noncompaction Presenting with Fatal Ventricular Arrhythmia Treated with Cardiac Resynchronization Therapy and an Implantable...

Por Kimura, Masato, Kawano, Kengo, Yaoita, Hisao, Kure, Shigeo
Publicado no Case Rep Cardiol (2018)

Asymptomatic left atrial appendage aneurysm (LAAA) with pericardial defect in a 1-year-old girl

Por Ota, Chiharu, Kimura, Masato, Kitami, Masahiro, Kure, Shigeo
Publicado no BMJ Case Rep (2018)

Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta

Por Kimura, Masato, Kakizaki, Shuhei, Kawano, Kengo, Sato, Shinichi, Kure, Shigeo
Publicado em 2013

Nateglinide is Effective for Diabetes Mellitus with Reactive Hypoglycemia in a Child with a Compound Heterozygous ABCC8 Mutation

Por Saito-Hakoda, Akiko, Yorifuji, Tohru, Kanno, Junko, Kure, Shigeo, Fujiwara, Ikuma
Publicado em 2012

Hypoketotic hypoglycemia in citrin deficiency: a case report

Por Wada, Yoichi, Arai-Ichinoi, Natsuko, Kikuchi, Atsuo, Sakamoto, Osamu, Kure, Shigeo
Publicado no BMC Pediatr (2020)

Postpartum Deterioration of Hemodynamics in a Case of Uncorrected Ebstein's Anomaly

Por Kimura, Masato, Kakizaki, Shuhei, Tazawa, Seiichi, Adachi, Osamu, Saiki, Yoshikatsu, Kure, Shigeo
Publicado em 2012

Central Venous Catheter-Related Bloodstream Infection with Kocuria kristinae in a Patient with Propionic Acidemia

Por Kimura, Masato, Kawai, Eichiro, Yaoita, Hisao, Ichinoi, Natsuko, Sakamoto, Osamu, Kure, Shigeo
Publicado no Case Rep Infect Dis (2017)

Genomic deletion within GLDC is a major cause of non‐ketotic hyperglycinaemia

Por Kanno, Junko, Hutchin, Tim, Kamada, Fumiaki, Narisawa, Ayumi, Aoki, Yoko, Matsubara, Yoichi, Kure, Shigeo
Publicado em 2007

Screening of SLC25A13 mutation in the Thai population

Por Wongkittichote, Parith, Sukasem, Chonlaphat, Kikuchi, Atsuo, Aekplakorn, Wichai, Jensen, Laran T, Kure, Shigeo, Wattanasirichaigoon, Duangrurdee
Publicado em 2013

Genetics and Biomarkers of Moyamoya Disease: Significance of RNF213 as a Susceptibility Gene

Por Fujimura, Miki, Sonobe, Shinya, Nishijima, Yasuo, Niizuma, Kuniyasu, Sakata, Hiroyuki, Kure, Shigeo, Tominaga, Teiji
Publicado em 2014

Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12

Por Shi, Rui-Ming, Kobayashi, Tomoko, Kikuchi, Atsuo, Sato, Ryo, Uematsu, Mitsugu, An, Kumiko, Kure, Shigeo
Publicado no Neurol Genet (2017)

Evolution into moyamoya disease in an infant with internal carotid artery aneurysms

Por Tanaka, Ryosuke, Takahashi, Satoru, Okano, Satomi, Okayama, Akie, Suzuki, Nao, Kure, Shigeo, Azuma, Hiroshi
Publicado no eNeurologicalSci (2017)

The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation

Por Abe, Yu, Aihara, Yu, Endo, Wakaba, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Uematsu, Mitsugu, Kure, Shigeo
Publicado no Mol Genet Metab Rep (2021)

Small Maf Compound Mutants Display Central Nervous System Neuronal Degeneration, Aberrant Transcription, and Bach Protein Mislocalization Coincident with Myoclonus and Abnormal Sta...

Por Katsuoka, Fumiki, Motohashi, Hozumi, Tamagawa, Yuna, Kure, Shigeo, Igarashi, Kazuhiko, Engel, James Douglas, Yamamoto, Masayuki
Publicado em 2003

Depletion of Molecular Chaperones from the Endoplasmic Reticulum and Fragmentation of the Golgi Apparatus Associated with Pathogenesis in Pelizaeus-Merzbacher Disease

Por Numata, Yurika, Morimura, Toshifumi, Nakamura, Shoko, Hirano, Eriko, Kure, Shigeo, Goto, Yu-ich, Inoue, Ken
Publicado em 2013

Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia

Por Kaga, Akimune, Saito-hakoda, Akiko, Uematsu, Mitsugu, Kamimura, Miki, Kanno, Junko, Kure, Shigeo, Fujiwara, Ikuma
Publicado em 2013

A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR

Por Saito-Hakoda, Akiko, Nishii, Aki, Uchida, Takashi, Kikuchi, Atsuo, Kanno, Junko, Fujiwara, Ikuma, Kure, Shigeo
Publicado no Clin Pediatr Endocrinol (2018)

Development of icterus gravis in a preterm infant with G71R UGT1A1 polymorphism

Por Kaga, Akimune, Ohkubo, Yukimune, Watanabe, Yohei, Saito, Sachiko, Matsuki, Takuma, Usuda, Haruo, Kanda, Susumu, Suzuki, Yutaka, Tanabu, Muneyuki, Kure, Shigeo
Publicado em 2013