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2019

A case of acute encephalophathy with residual neurological sequelae induced by immunoglobulin A vasculitis

Hamano, H., Matsushige, T., Inoue, H., Hoshide, M., Kobayashi, H., Kohno, F., Oka, M., Ichiyama, T., Ohga, S., Ouchi, K. & Hasegawa, S., Sep 1 2019, In : Journal of Clinical Neuroscience. 67, p. 270-271 2 p.

Research output: Contribution to journalArticle

Vasculitis
Immunoglobulin A
Brain Diseases
Cerebrovascular Circulation
Cerebrospinal Fluid

A child with prostaglandin I2-associated thyrotoxicosis: Case report

Sonoda, Y., Yamamura, K., Ishii, K., Ohkubo, K., Ihara, K., Sakai, Y. & Ohga, S., Jun 1 2019, In : JCRPE Journal of Clinical Research in Pediatric Endocrinology. 11, 2, p. 207-210 4 p.

Research output: Contribution to journalArticle

Open Access
Thyrotoxicosis
Epoprostenol
Hyperthyroidism
Pulmonary Hypertension
Thyroid Gland

A Nationwide Survey of Pediatric-onset Japanese Encephalitis in Japan

Nanishi, E., Hoshina, T., Sanefuji, M., Kadoya, R., Kitazawa, K., Arahata, Y., Sato, T., Hirayama, Y., Hirai, K., Yanai, M., Nikaido, K., Maeda, A., Torisu, H., Okada, K., Sakai, Y. & Ohga, S., Jun 1 2019, In : Clinical Infectious Diseases. 68, 12, p. 2099-2104 6 p., ciy816.

Research output: Contribution to journalReview article

Japanese Encephalitis
Japan
Japanese Encephalitis Vaccines
Pediatrics
Japanese Encephalitis Virus

A nationwide survey on tracheostomy for very-low-birth-weight infants in Japan

on behalf of the Neonatal Research Network of Japan, Jan 1 2019, In : Pediatric Pulmonology. 54, 1, p. 53-60 8 p.

Research output: Contribution to journalArticle

Very Low Birth Weight Infant
Tracheostomy
Japan
Odds Ratio
Parturition

A survey on the status of countermeasures against anticancer drug exposure for families-focus on pediatric cancer hospitals

Ohta, M., Noda, Y., Miyazono, M., Koga, Y., Kifune, M., Hamada, M., Taguchi, T. & Ohga, S., Apr 1 2019, In : Japanese Journal of Cancer and Chemotherapy. 46, 4, p. 673-677 5 p.

Research output: Contribution to journalArticle

Cancer Care Facilities
Pediatric Hospitals
Pharmaceutical Preparations
Occupational Exposure
Nurses

Chemokine levels predict progressive liver disease in Down syndrome patients with transient abnormal myelopoiesis

Kinjo, T., Inoue, H., Kusuda, T., Fujiyoshi, J., Ochiai, M., Takahata, Y., Honjo, S., Koga, Y., Hara, T. & Ohga, S., Aug 1 2019, In : Pediatrics and Neonatology. 60, 4, p. 382-388 7 p.

Research output: Contribution to journalArticle

Down Syndrome
Chemokines
Liver Failure
Liver Diseases
Chemokine CXCL9

Circulating endothelial glycocalyx components as a predictive marker of coronary artery lesions in Kawasaki disease

Ohnishi, Y., Yasudo, H., Suzuki, Y., Furuta, T., Matsuguma, C., Azuma, Y., Miyake, A., Okada, S., Ichihara, K., Ohga, S. & Hasegawa, S., Oct 1 2019, In : International Journal of Cardiology. 292, p. 236-240 5 p.

Research output: Contribution to journalArticle

Glycocalyx
Mucocutaneous Lymph Node Syndrome
Syndecan-1
Coronary Vessels
Hyaluronic Acid

Clinical Utility of Highly Purified 10% Liquid Intravenous Immunoglobulin in Kawasaki Disease

Oda, T., Nagata, H., Nakashima, Y., Nanishi, E., Takada, Y., Nishimura, M., Kubo, E., Hatae, K. & Ohga, S., Jan 1 2019, In : Journal of Pediatrics.

Research output: Contribution to journalArticle

Mucocutaneous Lymph Node Syndrome
Intravenous Immunoglobulins
Fever
Therapeutics

Correction to: Factors predicting the recurrence of Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis in children after treatment using the HLH-2004 protocol (International Journal of Hematology, (2019), 109, 5, (612-617), 10.1007/s12185-019-02612-2)

Yanagisawa, R., Matsuda, K., Ohga, S., Kanegane, H., Morimoto, A., Okamoto, Y., Ohara, A., Fukushima, K., Sotomatsu, M., Nomura, K., Saito, A. M., Horibe, K., Ishii, E. & Nakazawa, Y., May 3 2019, In : International journal of hematology. 109, 5, 1 p.

Research output: Contribution to journalComment/debate

Open Access
Hemophagocytic Lymphohistiocytosis
Hematology
Names
Publications
Viruses

Critical association of Pallister–Hall syndrome and congenital heart disease

Ochiai, M., Nagata, H., Tanaka, K., Ihara, K. & Ohga, S., Jan 1 2019, In : Pediatrics International. 61, 8, p. 827-828 2 p.

Research output: Contribution to journalArticle

Pallister-Hall Syndrome
Heart Diseases

Decision-making dilemmas of paediatricians: A qualitative study in Japan

Sasazuki, M., Sakai, Y., Kira, R., Toda, N., Shono, Y., Akamine, S., Torio, M., Ishizaki, Y., Sanefuji, M., Narama, M., Itai, K., Hara, T., Takada, H., Kizawa, Y. & Ohga, S., Aug 1 2019, In : BMJ open. 9, 8, e026579.

Research output: Contribution to journalArticle

Open Access
Qualitative Research
Medical Education
Decision Making
Japan
Interviews

Diagnostic challenge of the newborn patients with heritable protein C deficiency

Ichiyama, M., Inoue, H., Ochiai, M., ishimura, M., Shiraishi, A., Fujiyoshi, J., Yamashita, H., Sato, K., Matsumoto, S., Hotta, T., Uchiumi, T., Kang, D. & Ohga, S., Feb 1 2019, In : Journal of Perinatology. 39, 2, p. 212-219 8 p.

Research output: Contribution to journalArticle

Protein C Deficiency
Protein C
Protein S
Newborn Infant
Mutation

Dynamics of immunocyte activation during intravenous immunoglobulin treatment in Kawasaki disease

Matsuguma, C., Wakiguchi, H., Suzuki, Y., Okada, S., Furuta, T., Ohnishi, Y., Azuma, Y., Ohga, S. & Hasegawa, S., Jan 1 2019, In : Scandinavian Journal of Rheumatology.

Research output: Contribution to journalArticle

Mucocutaneous Lymph Node Syndrome
Intravenous Immunoglobulins
Therapeutics
HLA Antigens
T-Lymphocytes

Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene

Iida, Y., Wakiguchi, H., Okazaki, F., Nakamura, T., Yasudo, H., Kubo, M., Sugahara, K., Yamashita, H., Suehiro, Y., Okayama, N., Hashimoto, K., Iwamoto, N., Kawakami, A., Aoki, Y., Takada, H., Ohga, S. & Hasegawa, S., Mar 14 2019, In : Clinical Rheumatology. 38, 3, p. 943-948 6 p.

Research output: Contribution to journalArticle

Cryopyrin-Associated Periodic Syndromes
Deafness
Secondary Prevention
Mutation
Genes

Early Intervention With Adrenocorticotropin for Acute Encephalopathy-Associated Epileptic Spasms: Report of Two Cases

Yonemoto, K., Shono, Y., Sanefuji, M., Kaku, N., Sakata, A., Baba, R., Yamashita, F., Akamine, S., Torio, M., Ishizaki, Y., Maehara, Y., Sakai, Y. & Ohga, S., Jan 1 2019, In : Clinical EEG and Neuroscience. 50, 1, p. 51-55 5 p.

Research output: Contribution to journalArticle

Spasm
Brain Diseases
Adrenocorticotropic Hormone
Electroencephalography
Sick Leave

Egg antigen was more abundant than mite antigen in children's bedding: Findings of the pilot study of the Japan Environment and Children's Study (JECS)

Kitazawa, H., Yamamoto-Hanada, K., Saito-Abe, M., Ayabe, T., Mezawa, H., Ishitsuka, K., Konishi, M., Nakayama, S. F., Michikawa, T., Senju, A., Tsuji, M., Kusuhara, K., Sanefuji, M., Ohga, S., Oda, M., Mitsubuchi, H., Katoh, T., Ikegami, A., Mise, N., Matsumoto, K. & 2 others, Saito, H. & Ohya, Y., Jul 1 2019, In : Allergology International. 68, 3, p. 391-393 3 p.

Research output: Contribution to journalLetter

Open Access
Mites
Ovum
Japan
Antigens

Elevated non-invasive liver fibrosis markers and risk of liver carcinoma in adult patients after repair of tetralogy of Fallot

Yamamura, K., Sakamoto, I., Morihana, E., Hirata, Y., Nagata, H., Yamasaki, Y., Okumura, Y., Kouhashi, K., Koto, K., Tsutsui, H. & Ohga, S., Jul 15 2019, In : International Journal of Cardiology. 287, p. 121-126 6 p.

Research output: Contribution to journalArticle

Tetralogy of Fallot
Liver Cirrhosis
Carcinoma
Liver
Hyaluronic Acid
1 Citation (Scopus)

Epstein-Barr virus-associated γδ T-cell lymphoproliferative disorder associated with hypomorphic IL2RG mutation

Tanita, K., Hoshino, A., Imadome, K. I., Kamiya, T., Inoue, K., Okano, T., Yeh, T. W., Yanagimachi, M., Shiraishi, A., ishimura, M., Schober, T., Rohlfs, M., Takagi, M., Imai, K., Takada, H., Ohga, S., Klein, C., Morio, T. & Kanegane, H., Jan 1 2019, In : Frontiers in Pediatrics. 7, FEB, 15.

Research output: Contribution to journalArticle

Open Access
Lymphoproliferative Disorders
Human Herpesvirus 4
T-Lymphocytes
Mutation
Infectious Mononucleosis

Factors predicting the recurrence of Epstein–Barr virus-associated hemophagocytic lymphohistiocytosis in children after treatment using the HLH-2004 protocol

Yanagaisawa, R., Matsuda, K., Ohga, S., Kanegane, H., Morimoto, A., Okamoto, Y., Ohara, A., Fukushima, K., Sotomatsu, M., Nomura, K., Saito, A. M., Horibe, K., Ishii, E. & Nakazawa, Y., May 3 2019, In : International journal of hematology. 109, 5, p. 612-617 6 p.

Research output: Contribution to journalArticle

Hemophagocytic Lymphohistiocytosis
Viruses
Recurrence
T-Cell Antigen Receptor
Therapeutics

Hemorrhagic Pneumonia as the First Manifestation of Anhidrotic Ectodermal Dysplasia with Immunodeficiency

Shono, Y., Sonoda, M., ishimura, M., Kanno, S. & Ohga, S., Apr 15 2019, In : Journal of Clinical Immunology. 39, 3, p. 264-266 3 p.

Research output: Contribution to journalLetter

Ectodermal Dysplasia
Pneumonia

Hemostatic assessment of combined anticoagulant therapy using warfarin and prothrombin complex concentrates in a case of severe protein C deficiency

Ogiwara, K., Nogami, K., Mizumachi, K., Nakagawa, T., Noda, N., Ohga, S. & Shima, M., Jun 20 2019, In : International journal of hematology. 109, 6, p. 650-656 7 p.

Research output: Contribution to journalArticle

Protein C Deficiency
Hemostatics
Warfarin
Anticoagulants
Therapeutics

High incidence of ductal closure or narrowing at birth in patients with right ventricular outflow tract obstruction with normal orientation of the ductus arteriosus

Nagata, H., Terashi, E., Muraoka, M., Uike, K., Hirata, Y., Tatewaki, H., Fujita, Y., Yamamura, K. & Ohga, S., Jan 1 2019, In : Cardiology in the Young. 29, 1, p. 54-58 5 p.

Research output: Contribution to journalArticle

Ventricular Outflow Obstruction
Ductus Arteriosus
Patient Rights
Parturition
Incidence

Late-Onset Circulatory Collapse and Risk of Cerebral Palsy in Extremely Preterm Infants

Yasuoka, K., Inoue, H., Egami, N., Ochiai, M., Tanaka, K., Sawano, T., Kurata, H., Ichiyama, M., Fujiyoshi, J., Matsushita, Y., Sakai, Y. & Ohga, S., Sep 1 2019, In : Journal of Pediatrics. 212, p. 117-123.e4

Research output: Contribution to journalArticle

Extremely Premature Infants
Cerebral Palsy
Shock
Delayed Diagnosis
Hypotension

Late-onset sepsis and encephalopathy after bicycle-spoke injury: A case report

Takemoto, R., Motomura, Y., Kaku, N., Shono, Y., Muraoka, M., Kanno, S., Tanaka, T., Sakai, Y., Maehara, Y. & Ohga, S., May 28 2019, In : BMC Infectious Diseases. 19, 1, 472.

Research output: Contribution to journalArticle

Open Access
Brain Diseases
Sepsis
Wounds and Injuries
Diffusion Magnetic Resonance Imaging
Methicillin

MOB1 regulates thymocyte egress and T-cell survival in mice in a YAP1-independent manner

Kato, W., Nishio, M., To, Y., Togashi, H., Mak, T. W., Takada, H., Ohga, S., Maehama, T. & Suzuki, A., Jul 1 2019, In : Genes to Cells. 24, 7, p. 485-495 11 p.

Research output: Contribution to journalArticle

Thymocytes
Cell Survival
Phosphotransferases
T-Lymphocytes
Proteins

Multi-season analyses of causative pathogens in children hospitalized with asthma exacerbation

Abe, N., Yasudo, H., Fukano, R., Nakamura, T., Okada, S., Wakiguchi, H., Okazaki, F., Shirabe, K., Toda, S., Okamoto, R., Ouchi, K., Ohga, S. & Hasegawa, S., Jan 1 2019, (Accepted/In press) In : Pediatric Allergy and Immunology.

Research output: Contribution to journalArticle

Rhinovirus
Hospitalized Child
Respiratory Syncytial Viruses
Epidemiology
Hospitalization
2 Citations (Scopus)

Navigation surgery using indocyanine green fluorescent imaging for hepatoblastoma patients

Sozaki, R., Kawakubo, N., Matsuura, T., Yoshimaru, K., Koga, Y., Takemoto, J., Shibui, Y., Kouhashi, K., Hayashida, M., Oda, Y., Ohga, S. & Taguchi, T., May 1 2019, In : Pediatric surgery international. 35, 5, p. 551-557 7 p.

Research output: Contribution to journalArticle

Hepatoblastoma
Indocyanine Green
Neoplasms
Liver
Lung
1 Citation (Scopus)

Outcomes in children with hemophagocytic lymphohistiocytosis treated using HLH-2004 protocol in Japan

HLH/LCH committee members of the Japan Children’s Cancer Group, Feb 20 2019, In : International journal of hematology. 109, 2, p. 206-213 8 p.

Research output: Contribution to journalArticle

Hemophagocytic Lymphohistiocytosis
Japan
Hematopoietic Stem Cell Transplantation
Viruses
Survival Rate
1 Citation (Scopus)

Parotid gland carcinoma: 32 years' experience from a single institute

Nakano, T., Yasumatsu, R., Kogo, R., Hashimoto, K., Asai, K., Ohga, S., Yamamoto, H., Nakashima, T. & Nakagawa, T., Jul 1 2019, In : Journal of Laryngology and Otology. 133, 7, p. 604-609 6 p.

Research output: Contribution to journalArticle

Parotid Gland
Carcinoma
Neoplasms
Survival
Radiotherapy
1 Citation (Scopus)
Dental Pulp
Dopaminergic Neurons
Brain-Derived Neurotrophic Factor
Neurites
Attention Deficit Disorder with Hyperactivity

Posttransplant recipient-derived CD4 + T-cell lymphoproliferative disease in X-linked hyper-IgM syndrome

Hagio, Y., Shiraishi, A., ishimura, M., Sonoda, M., Eguchi, K., Yamamoto, H., Oda, Y. & Ohga, S., Mar 1 2019, In : Pediatric Blood and Cancer. 66, 3, e27529.

Research output: Contribution to journalLetter

Type 1 Hyper-IgM Immunodeficiency Syndrome
T-Lymphocytes

Procalcitonin levels predicting the infliximab response of immunoglobulin resistant Kawasaki disease

Nakashima, Y., Nanishi, E., Yamamura, K., Uike, K., Terashi, E., Hirata, Y., Nagata, H., Morihana, E., Tanaka, T., Honjo, S., Takada, H. & Ohga, S., Feb 1 2019, In : Cytokine. 114, p. 26-31 6 p.

Research output: Contribution to journalArticle

Mucocutaneous Lymph Node Syndrome
Calcitonin
Immunoglobulins
Intravenous Immunoglobulins
Serum

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

Iwasawa, S., Yanagi, K., Kikuchi, A., Kobayashi, Y., Haginoya, K., Matsumoto, H., Kurosawa, K., Ochiai, M., Sakai, Y., Fujita, A., Miyake, N., Niihori, T., Shirota, M., Funayama, R., Nonoyama, S., Ohga, S., Kawame, H., Nakayama, K., Aoki, Y., Matsumoto, N. & 4 others, Kaname, T., Matsubara, Y., Shoji, W. & Kure, S., Jun 1 2019, In : Annals of Neurology. 85, 6, p. 927-933 7 p.

Research output: Contribution to journalArticle

Adaptor Protein Complex 1
Axons
Phenotype
Kinesin
Axonal Transport

Regenerative medicine using stem cells from human exfoliated deciduous teeth (SHED): a promising new treatment in pediatric surgery

Taguchi, T., Yanagi, Y., Yoshimaru, K., Zhang, X. Y., Matsuura, T., Nakayama, K., Kobayashi, E., Yamaza, H., Nonaka, K., Ohga, S. & Yamaza, T., Apr 10 2019, In : Surgery today. 49, 4, p. 316-322 7 p.

Research output: Contribution to journalReview article

Biliary Atresia
Diaphragmatic Hernia
Regenerative Medicine
Deciduous Tooth
Three-Dimensional Imaging

Risk prediction of severe reaction to oral challenge test of cow’s milk

Kawahara, T., Tezuka, J., Ninomiya, T., Honjo, S., Masumoto, N., Nanishi, M., Nakayama, H. & Ohga, S., Feb 12 2019, In : European Journal of Pediatrics. 178, 2, p. 181-188 8 p.

Research output: Contribution to journalArticle

Milk
Food
Allergens
Immunoglobulin E
Asthma

Serum soluble ST2 as a marker of renal scar in pediatric upper urinary tract infection

Ohta, N., Yasudo, H., Mizutani, M., Matsushige, T., Fukano, R., Kittaka, S., Maehara, K., Ichihara, K., Ohga, S. & Hasegawa, S., Aug 1 2019, In : Cytokine. 120, p. 258-263 6 p.

Research output: Contribution to journalArticle

Pediatrics
Biomarkers
Urinary Tract Infections
Cicatrix
Kidney
2 Citations (Scopus)

The Influence of Sarcopenia on High-Risk Neuroblastoma

Kawakubo, N., Kinoshita, Y., Sozaki, R., Koga, Y., Oba, U., Ohga, S. & Taguchi, T., Apr 1 2019, In : Journal of Surgical Research. 236, p. 101-105 5 p.

Research output: Contribution to journalArticle

Psoas Muscles
Sarcopenia
Neuroblastoma
Disease-Free Survival
Serum Albumin
Open Access
Hepatolenticular Degeneration
Deciduous Tooth
Inbred LEC Rats
Hepatocytes
Stem Cells
Trachea
Pediatrics
Critical Care
Spine
Airway Management
2018
3 Citations (Scopus)

A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

Akamine, S., Ishizaki, Y., Sakai, Y., Torisu, H., Fukai, R., Miyake, N., Okubo, K., Koga, H., Sanefuji, M., Sakata, A., Kimura, M., Yamaguchi, S., Sakamoto, O., Hara, T., Saitsu, H., Matsumoto, N. & Ohga, S., Aug 1 2018, In : European Journal of Medical Genetics. 61, 8, p. 451-454 4 p.

Research output: Contribution to journalArticle

Brain Diseases
Mutation
Methylmalonic Acid
Exome
Infantile Spasms

A rightward saccade to an unexpected stimulus as a marker for lateralised visuospatial attention /631/378/2649/1310 /631/378/2617/1795 /631/477/2811 article

Sanefuji, M., Yamashita, H., Torio, M., Katsuki, D., Akamine, S., Ishizaki, Y., Kishimoto, J., Sakai, Y., Takada, H., Yoshida, K. & Ohga, S., Dec 1 2018, In : Scientific reports. 8, 1, 7562.

Research output: Contribution to journalArticle

Saccades
Reaction Time
Task Performance and Analysis
Healthy Volunteers
Brain
2 Citations (Scopus)

Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia

Sonoda, M., ishimura, M., Shono, Y., Terashi, E., Eguchi, K., Sakai, Y., Takada, H., Hama, A., Kanno, H., Toki, T., Ito, E. & Ohga, S., Aug 1 2018, In : International journal of hematology. 108, 2, p. 228-231 4 p.

Research output: Contribution to journalArticle

Anemia
Neonatal Anemia
Clonal Evolution
Chelation Therapy
Refractory Anemia

Burden of Human Metapneumovirus and Respiratory Syncytial Virus Infections in Asthmatic Children

Furuta, T., Hasegawa, S., Mizutani, M., Iwai, T., Ohbuchi, N., Kawano, S., Tashiro, N., Uchida, M., Hasegawa, M., Motoyama, M., Sekino, T., Nakatsuka, K., Ichihara, K., Shirabe, K. & Ohga, S., Nov 1 2018, In : The Pediatric infectious disease journal. 37, 11, p. 1107-1111 5 p.

Research output: Contribution to journalArticle

Human respiratory syncytial virus
Metapneumovirus
Respiratory Syncytial Virus Infections
Infection
Odds Ratio
2 Citations (Scopus)

Cancer management in kabuki syndrome: The first case of wilms tumor and a literature review

Teranishi, H., Koga, Y., Nakashima, K., Morihana, E., Ishii, K., Sakai, Y., Taguchi, T., Oda, Y., Miyake, N., Matsumoto, N. & Ohga, S., Jul 1 2018, In : Journal of Pediatric Hematology/Oncology. 40, 5, p. 391-394 4 p.

Research output: Contribution to journalArticle

Wilms Tumor
Neoplasms
Dandy-Walker Syndrome
Hypoplastic Left Heart Syndrome
Mutation

Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome

Itami, H., Hara, S., Matsumoto, M., Imamura, S., Kanai, R., Nishiyama, K., ishimura, M., Ohga, S., Yoshida, M., Tanaka, R., Ogawa, Y., Asada, Y., Sekita-Hatakeyama, Y., Hatakeyama, K. & Ohbayashi, C., Oct 1 2018, In : Thrombosis Research. 170, p. 148-155 8 p.

Research output: Contribution to journalArticle

Thrombotic Thrombocytopenic Purpura
Complement Activation
Complement Membrane Attack Complex
Complement C5b
Staining and Labeling
Hematology
Publications
Anemia
3 Citations (Scopus)

De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome

Toki, T., Yoshida, K., Wang, R. N., Nakamura, S., Maekawa, T., Goi, K., Katoh, M. C., Mizuno, S., Sugiyama, F., Kanezaki, R., Uechi, T., Nakajima, Y., Sato, Y., Okuno, Y., Sato-Otsubo, A., Shiozawa, Y., Kataoka, K., Shiraishi, Y., Sanada, M., Chiba, K. & 19 others, Tanaka, H., Terui, K., Sato, T., Kamio, T., Sakaguchi, H., Ohga, S., Kuramitsu, M., Hamaguchi, I., Ohara, A., Kanno, H., Miyano, S., Kojima, S., Ishiguro, A., Sugita, K., Kenmochi, N., Takahashi, S., Eto, K., Ogawa, S. & Ito, E., Sep 6 2018, In : American journal of human genetics. 103, 3, p. 440-447 8 p.

Research output: Contribution to journalArticle

Germ-Line Mutation
Dyskeratosis Congenita
Diamond-Blackfan Anemia
Induced Pluripotent Stem Cells
Agammaglobulinemia

Diagnostic potential of stored dried blood spots for inborn errors of metabolism: A metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency

Kaku, N., Ihara, K., Hirata, Y., Yamada, K., Lee, S., Kanemasa, H., Motomura, Y., Baba, H., Tanaka, T., Sakai, Y., Maehara, Y. & Ohga, S., Oct 1 2018, In : Journal of Clinical Pathology. 71, 10, p. 885-889 5 p.

Research output: Contribution to journalArticle

Inborn Errors Metabolism
Autopsy
Molecular Biology
Cause of Death
Newborn Infant
1 Citation (Scopus)

Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2

Akamine, S., Sagata, N., Sakai, Y., Kato, T., Nakahara, T., Matsushita, Y., Togao, O., Akio, H., Sanefuji, M., Ishizaki, Y., Torisu, H., Saitsu, H., Matsumoto, N., Hara, T., Sawa, A., Kano, S., Furue, M., Kanba, S., Shaw, C. A. & Ohga, S., Jan 1 2018, In : Epilepsia Open. 3, 1, p. 81-85 5 p.

Research output: Contribution to journalArticle

Open Access
Neurofibromatosis 1
Brain Diseases
Mutation
Exome
Genes
2 Citations (Scopus)

Effective infliximab therapy for the early regression of coronary artery aneurysm in Kawasaki disease

Nagatomo, Y., Muneuchi, J., Nakashima, Y., Nanishi, E., Shirozu, H., Watanabe, M., Uike, K., Nagata, H., Hirata, Y., Yamamura, K., Takahashi, Y., Okada, S., Suzuki, Y., Hasegawa, S. & Ohga, S., Nov 15 2018, In : International Journal of Cardiology. 271, p. 317-321 5 p.

Research output: Contribution to journalArticle

Coronary Aneurysm
Mucocutaneous Lymph Node Syndrome
Coronary Vessels
Therapeutics
Infliximab