Faculty Information - NAGATA Satoru

（Last updated : 2026-04-25 16:05:49）

NAGATA Satoru
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Department of Pediatrics

Position Visiting Professor

■ Books

Chapter contribution　

Proliferation without nuclei of Mitochondrial cells, 東京女子医科大学総合研究所　紀要
−2012年度報告書ー 2013/11/30

■ Published papers

1.	Case report	Human parechovirus type A3 infection in a 7-year-old child presenting with severe lower extremity myalgia: A case report 2026/03/16
2.	Case report	New onset of juvenile dermatomyositis after COVID-19 infection in two patients: a case report 2026/03
3.	Case report	Sialidosis type1 with cardiac malformation: A case report 2025/09/01
4.	Original article	Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial 2025/09
5.	Original article	Continuous adipose-derived stem cell therapy from the neonatal stage effectively reduces Duchenne muscular dystrophy symptoms in rats. 2025/08
6.	Review article	Challenges in genetic counseling for RYR1-related myopathies 2025/06/01
7.	Original article	Cross-Sectional Study of the Association Between Plasma Brain Natriuretic Peptide Levels and Left Ventricular Shortening Fraction in Fukuyama Congenital Muscular Dystrophy 2025/05/28
8.	Original article	COVID-19 infection and vaccination in children with Dravet syndrome or infantile epileptic spasms syndrome: An internet survey in Japan 2025/03/30
9.	Original article	Unique DUP-TRP/INV-DUP structure detected by long-read sequencing 2025/03/12
10.	Original article	Urinary prostaglandin D2 and E2 metabolites are elevated with disease severity in patients with Fukuyama congenital muscular dystrophy. 2025/02
11.	Other	[PLAIN LANGUAGE SUMMARY] non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome 2025/01/03
12.	Case report	Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder 2024/06/15
13.	Original article	Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome 2024/04/24
14.	Original article	Novel Pathogenicity of Secretory Proteins from Acinetobacter Radioresistens in Experimental Models 2024/03
15.	Case report	Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15
16.	Case report	Pain Alleviation With Enzyme Replacement Therapy in Childhood Female Fabry Disease: A Case Report 2023/04/25
17.	Original article	Cross-Reactivity of Antibodies in Intravenous Immunoglobulin Preparation for Protection against SARS-CoV-2 2023/02/13
18.	Original article	A Cross-Sectional Observational Study of developmental Coordination Disorders in the School-Age Very Low Birth Weight Children 2022/12/20
19.	Original article	T Cell Immunological Signatures of Peripheral Blood Mononuclear Cells in Hen's Egg Allergic Children 2022/12/20
20.	Case report	Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, epilepsy, and early craniosynostosis 2022/12/05
21.	Original article	Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review 2022/09
22.	Original article	Laminin-221-derived recombinant fragment facilitates isolation of cultured skeletal myoblasts 2022/05
23.	Case report	GNAO1-Related Disorder in a Patient with Psychomotor Developmental Delay and Hypotonia 2022/04/25
24.	Case report	A Case Angelman Syndrome Who Suffered Hemiconvulsion-Hemiplegia-Epilepsy Syndrome 2022/02/25
25.	Original article	Psychogenic seizures in a child with infantile convulsions and choreoathetosis 2022
26.	Original article	Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. 2021/12/20
27.	Original article	HECW2-related disorder in four Japanese patients 2021/10
28.	Original article	Ictal vocalizations are relatively common in myoclonic-atonic seizures associated with Doose syndrome: an audio-video-polygraphic analysis. 2021/10
29.	Case report	Psychogenic seizures in a child with infantile convulsions and choreoathetosis 2021/09/07
30.	Original article	Morphometric analysis of spike-wave complexes (SWCs) causing myoclonic seizures in children with idiopathic myoclonic epilepsies - A positive SWC component correlates with myoclonic intensity. 2021/08
31.	Original article	Transition from pediatric to adult care in a Japanese cohort of childhood-onset epilepsy: prevalence of epileptic syndromes and complexity in the transition. 2021/05
32.	Case report	Low-dose phenobarbital for epilepsy with myoclonic absences: A case report 2021/03/23
33.	Case report	Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency 2021/03/23
34.	Case report	A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting 2021/03/06
35.	Case report	Valproate-Induced Mild Hypofibrinogenemia with Petechiae in a Case of Epilepsy with Myoclonic-Atonic Seizures 2020/12/01
36.	Original article	Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano-like pattern 2020/12
37.	Case report	A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS) 2020/08/01
38.	Review article	A short form of gross motor function measure for Fukuyama congenital muscular dystrophy 2020/05
39.	Original article	A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. 2019/09
40.	Case report	Compound heterozygous ALDH7A1 mutation causes the hemi-allelic expression in a patient with pyridoxine-dependent epilepsy 2019/09
41.	Original article	Infliximab for very early-onset inflammatory bowel disease: A tertiary center experience in Japan. 2019/08
42.	Case report	Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease. 2019/07
43.	Review article	Causes of Kawasaki Disease-From Past to Present. Front Pediatr. 2019 Feb 5;7:18. doi: 10.3389/fped.2019.00018. eCollection 2019. 　英文総説 2019/02
44.	Original article	Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. 2019/01
45.	Case report	A novel PAFAH1B1 splicing variant identified in a patient with classical lissencephaly 2019
46.	Case report	Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome 2018/12
47.	Case report	Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG 2018/11
48.	Original article	Characteristic findings of skeletal muscle MRI in caveolinopathies. 2018/10
49.	Case report	An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU 2018/09
50.	Original article	Questionnaire survey on the current status of ketogenic diet therapy in patients with glucose transporter 1 deficiency syndrome (GLUT1DS) in Japan. 2018/05
51.	Original article	Two cases of chidhood narcolepsy mimicking epileptic seizures in video-EEG/EMG 2018/05
52.	Other	Evolution of gut Bifidobacterium population in healthy Japanese infants over the first three years of life: a quantitative assessment. 2017/08
53.	Case report	Systemic lupus erythematosus associated with RASopathy 2017/07
54.	Case report	A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria 2017/05
55.	Case report	Immunosuppressive medication is not associated with surgical site infection after surgery for intractable ulcerative colitis in children. 2017/05
56.	Original article	Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
57.	Case report	Childhood-onset anti-Ku antibody-positive generalized morphea with polymyositis: A Japanese case study 2015
58.	Case report	A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures. 2014/12
59.	Other	Platelet Mitochondrial evaluation during Cytochrome and Dichloroacetate Treatments of MELAS 2014/11/30
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■ Academic conference presentation

1.	A Girl with Mixed Connective Tissue Disease Positive for Anti-hUBF/NOR90 Antibody （Poster notice，General） 2026/04/18
2.	Endoscopic Removal of Metallic Fragments from Heated Tobacco Products Infants : Two Case Reports （Poster notice，General） 2026/04/18
3.	Effects of activated symbiosis of gut microbiota on reducing risk of childhood disenses （Speech，Special/Invited Lecture） 2026/04/17
4.	A 12-year-old girl with a novel ITGA7 homozygous variant with ankle flexion limitation as the primary symptom （Poster notice，General） 2025/12/20
5.	De novo loss-of-function heterozygous variant in SETD1B identified in a patient With psychomotor developmental delay （Poster notice，General） 2025/12/20
6.	Compound heterozygous variants of PNPT1 identified in a patient with severe neurodevelopmental dalay （Poster notice，General） 2025/12/19
7.	A survey on vaccinations in children with Dravet syndrome or infantile epileptic spasms syndrome (West syndrome) （Poster notice，General） 2025/10/04
8.	Two boys with X-linked myotubular myopathy(XLMTM) with findings of peliosis hepatis after infancy （Speech，General） 2025/06/07
9.	Case of extra marker chromosome 15 missed at unlicensed NIPT facility （Poster notice，General） 2025/06/06
10.	Intractable case of generalized myasthenia gravis with transient improvement by Eculizumab （Poster notice，General） 2025/06/06
11.	A boy with a novel variant in the ANO3 gene with developmental regression and ataxia （Poster notice，General） 2025/06/05
12.	Investigating the utility of serum NfL as a biomarker for macrocephalic type with subcortical cysts （Speech，General） 2025/06/05
13.	Questionnaire survey on challenges and needs for transition to adulthood in Glut1 deficiency syndrome （Poster notice，General） 2025/06/05
14.	Study of Motor and Respiratory Function in Ullrich Congenital Muscular Dystrophy （Speech，General） 2025/06/05
15.	A 7-year-old girl diagnosed with myalgia due to human parechovirus type3 from severe leg pain （Poster notice，General） 2025/04/19
16.	current situation and issues of developmental outpatient care at our hospital （Poster notice，General） 2025/04/19
17.	Social Media Addiction and the Risk of Substance Abuse in Adolescents with Chronic Illness : Report of Two Patients （Poster notice，General） 2025/04/19
18.	Three cases of Pulled elbow diagnosed by ultrasonography （Poster notice，General） 2025/04/19
19.	Twins with recurrent cervical lymphadenitis diagnosed as Sjögren's　syndrome by pathological findings in lymph nodes （Poster notice，General） 2025/04/18
20.	A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait （Poster notice，General） 2024/10/12
21.	A rare de novo CHD1 variant in a patient with Rett-like neurodevelopmental disorder （Poster notice，General） 2024/10/10
22.	A 2023 survey of COVID-19 infections and vaccinations in children with Dravet syndrome and infantile epileptic spasms syndrome （Poster notice，General） 2024/09/14
23.	Study of upper limb function using Bioelectrical impedance analysis in Fukuyama congenital muscular dystrophy （Speech，General） 2024/06/01
24.	Effect of treatment with miglustat ovar 10 years in a patient with late infantile onset Niemann-Pick diasease type C （Poster notice，General） 2024/05/30
25.	Survey of COVID-19-affected neuromuscular disease patients in Japan （Speech，General） 2024/05/30
26.	The key points to differentiate situation-related seizures from epileptic seizures inGlut1 deficiency syndrome （Speech，General） 2024/05/30
27.	The neurodevelopmental courses and disorders at the school age in the very low birth weight infants （Poster notice，General） 2024/05/30
28.	A phase 3, open-label, study to evaluate eculizumab in adolescents with refractory generalized myasthenia gravis （Poster notice，General） 2024/04/20
29.	Juvenile Dermatomyositis with Interstitial Lung Disease after COVID-19: A Case Report. （Poster notice，General） 2024/03/15
30.	A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder （Poster notice，General） 2023/10/14
31.	Study of dysphagia in Fukuyama congenital muscular dystrophy (FCMD) （Poster notice，General） 2023/10/06
32.	Sleep disorders in Fukuyama congenital muscular distrophy （Speech，General） 2023/05/27
33.	Study of dysphagia in Fukoyama congenital muscular dystrophy (FCMD) （Speech，General） 2023/05/27
34.	A boy with novel ACAD9 variant presenting hypertrophic cardiomyopathy, muscle weakness and exercise-intolerance （Poster notice，General） 2023/05/26
35.	A nationwide survey of nursery schooling and parental employment in children with epilepsy and febrile seizures （Poster notice，General） 2023/05/26
36.	A survey of COVID-19 infections and vaccinations in children with Dravet syndrome and West syndrome （Poster notice，General） 2023/05/26
37.	Long-term follow-up of skeletal muscle imaging in patients with childhood-onset Pompe disease （Speech，General） 2023/05/26
38.	Potocki-Lupski Syndrome Family Association Support （Poster notice，General） 2023/05/26
39.	Two cases of microdeletion of 3p14 containing MAGl1 （Poster notice，General） 2023/05/26
40.	A boy with spondylodiscitis complicated with epidural abscess induced by exercise （Poster notice，General） 2023/04/16
41.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （Speech，General） 2023/04/16
42.	Two infantile patients with pseudohypoaldosteronism assoiated with congenital anomalies of the kidney and urinary tract （Poster notice，General） 2023/04/16
43.	Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation （Speech，General） 2022/12/17
44.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2022/10/14
45.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Speech，General） 2022/08/27
46.	A case of Lamb-Shaffer Syndrome diagnosed by family awareness of vision loss （Poster notice，General） 2022/06/04
47.	Two cases showing a microdeletion of 5q14.3 where MEF2C is Iocated （Poster notice，General） 2022/06/04
48.	2nd survey of nursery schooling and parental employment in Dravet syndrome and West syndrome （Poster notice，General） 2022/06/03
49.	A study on under-recognized non epileptic seizures in Glut1 deficiency syndrome （Speech，General） 2022/06/03
50.	Characteristics of cardiac dysfunction in patients with Fukuyama congenital muscular dystrophy （Speech，General） 2022/06/03
51.	Correlation between BNP and NT-proBNP in muscular dystrophy (Second report) （Speech，General） 2022/06/03
52.	Family association questionnaire on "unmanageable troubled behaviors” in patients with FCMD （Speech，General） 2022/06/03
53.	Evaluation of clinical features and timing of ERT inition, based on biomarkers and genotype in female Fabry disease （Poster notice，General） 2021/10/14
54.	A Survey of Home Bathing in Infantile-onset Intractable Epilepsy. （Speech，General） 2021/09/23
55.	A Survey of Nursery/School Swimming in Infantile-onset Intractable Epilepsy. （Speech，General） 2021/09/23
56.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （Speech，General） 2021/08/28
57.	A Survey of Home Bathing and Nursery/School Swimming in Children with Infantile-onset Intractable Epilepsy in Japan （Poster notice，General） 2021/06/10
58.	A case of Chorea as the firstmanifestation of antiphospholipid syndrome （Speech，General） 2021/05/29
59.	A symptomatic female MTM1 mutation carrier with right-dominant asymmetric muscle weakness （Poster notice，General） 2021/05/29
60.	Autopsy findings of Vici syndrome with refractory diarrhea （Poster notice，General） 2021/05/28
61.	Correlation between BNP and NT-proBNP in muscular dystrophy （Speech，General） 2021/05/28
62.	Evaluation of essential trace elements in patients with Fukuyama congenital muscle dystrophy （Speech，General） 2021/05/28
63.	Nationwide survey of medical care situations for myotonic dystrophy in Japan （Speech，General） 2021/05/28
64.	Infant nutrition and intestinal microbiota （Speech，Panelist at Symposium/Workshop (Appointed)） 2021/04/17
65.	Anxiety in Gelbert syndrome　-association with Vitamin D deficiency- （Poster notice，General） 2020/08/21
66.	A case of chondrodysplasia punctate patient requiring differentiation of floppy infant （Poster notice，General） 2020/08/19
67.	Actigraphy is valid for motor function assessment of Fukuyama congenital muscular dystrophy （Speech，General） 2020/08/19
68.	Clinical features of discontinuation of antiepileptic drugs in patients with West syndrome （Poster notice，General） 2020/08/19
69.	Considering diagnostic announcement by a survey for parents of myotonic dystrophy patients （Speech，General） 2020/08/19
70.	Early physical therapy intervention for an infant with Wolf-Hirschhorn syndrome : acase report （Poster notice，General） 2020/08/19
71.	Efficacy evaluation of Nusinersen for spinal muscular atrophy type 1/2 using bioelectrical impedance （Speech，General） 2020/08/19
72.	Mechanism of chromosomal structural abnormalities with increased copy number at both ends （Poster notice，General） 2020/08/19
73.	Questionnaire survey on attitude toward gene therapy for glucose transporter 1 deficiency （Poster notice，General） 2020/08/19
74.	Study on epilepsy and ingestive status in severe motor and intellectual disabilities （Poster notice，General） 2020/08/19
75.	The significance of the assessment for visual and fine motor skills in prematurely born babies （Speech，General） 2020/08/19
76.	Complications of Fukuyama congenital muscular dystrophy revealed from a nationwide registry （Poster notice，General） 2019/10/04
77.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （Poster notice，General） 2019/10/04
78.	A questionnaire for parents about raising children with congenital/childhood-onset myotonic dystrophy in Japan （Poster notice，General） 2019/10/02
79.	Characteristic findings of skeletal muscle MRI in Cavecolinopathies （Poster notice，General） 2019/10/02
80.	Characteristic skeletal muscle imuscle imaging patterns in Japanese patients with Pompe disease （Speech，Panelist at Symposium/Workshop (Appointed)） 2019/07/13
81.	Characteristic findings of skeletal muscle MRI in childhood-onset Cavecolinopathy （Speech，General） 2019/06/01
82.	Chinical features of seizure relapse after ACTH therapy inWest syndrome （Poster notice，General） 2019/06/01
83.	Effect of nusinersen on gross and fine motor -A case of spinal muscular atrophy type 1- （Speech，General） 2019/06/01
84.	Four cases of ACTH-induced seizures （Poster notice，General） 2019/06/01
85.	The cliniczl issues about the neurodevelopmental disorders in the vwry low birth weight babies （Speech，General） 2019/06/01
86.	A new case of 19q13.32 deletion with psychomotor delay, characteristic face, cardiac malformation （Poster notice，General） 2019/05/31
87.	A questionnarvey of intellectual development in Fukuyama congenital muscular dystrophy （Speech，General） 2019/05/31
88.	Efficacy of corticosteroids therapy for Fukuyama congenital muscular dystrophy （Speech，General） 2019/05/31
89.	Urinary titin fragment in Fukuyama congenital muscular dystrophy （Speech，General） 2019/05/31
90.	The correlation between brain MRI imaging and biochemical and molecular findings in Japanese female patients with Fabry disease （Poster notice，General） 2019/02/05
91.	The effectiveness of nusinersen in 3 patients with spinal muscular atrophy type I receiving TPPV （Speech，General） 2018/06/02
92.	A case with severe psychomotor retardation and diarrhea:Vici syndrome caused by EPG5 mutations? （Poster notice，General） 2018/06/01
93.	Care and prevention of foot disorders in Bethelm myopathy patients （Poster notice，General） 2018/06/01
94.	Correlations between Brain image and molecular molecular and biochemistry findings in female Fabry patients （Speech，General） 2018/06/01
95.	Developmental outcomes of very low birth weight babies with intraventricular hemorrhage （Speech，General） 2018/06/01
96.	Early diagnosis and prompt initiation of enzyme replacement therapy in a 1-year-old girl with Pompe disease （Speech，Special/Invited Lecture） 2018/06/01
97.	Effects of antiepileptic drugs on shuddering attacks （Poster notice，General） 2018/06/01
98.	The clinical study for the very low birth weight babies with posthemorrhagic hydrocephalus （Speech，General） 2018/06/01
99.	Three patients with excessive X-chromosomes complicated with focal epilepsy （Speech，General） 2018/06/01
100.	Unexpected high valproate levels and neutropenia in infant with West syndrome and SCAD deficiency （Poster notice，General） 2018/06/01
101.	A girl with Fabry disease presenting with refractory chronic migraine （Poster notice，General） 2018/05/31
102.	Efficacy of perampanel on patients with refractory epilepsy older than 12 years of age （Poster notice，General） 2018/05/31
103.	Importance of the comprehensive medical care for patients with tuberous sclerous sclerous sclerosis complex in TWMU （Poster notice，General） 2018/05/31
104.	Modified gross motor function measure for Fukuyama congenital muscular dystrophy （Speech，General） 2018/05/31
105.	Outcomes in light-for-date neonates with very low birth weight by cohort （Poster notice，General） 2018/05/31
106.	Study on childcare counseling cases where the problem of nuraing ability of families became apparent （Poster notice，General） 2018/05/31
107.	The questionnaire survey about the process and the notice of diagnosis for the FCMD patient's family （Speech，General） 2018/05/31
108.	B-cell precursor acute lymphoblastic leukemia with multiple metastatic anapestic ependymoma （Poster notice，General） 2017/10/20
109.	Time-dependent change of Musce MRI STIR in Fukuyama congenital muscular dystrophy （Speech，General） 2017/10/14
110.	Efficacy of continuous midazolam infusion for hyperthermia-induced seizures in Dravet syndrome （Poster notice，General） 2017/09/05
111.	Comparison of seizure outcome in patients with West syndrome after extremely low-dose adrenocorticotropic hormone therapy （Poster notice，General） 2017/09/04
112.	Two cases of narcolepsy with unique cataplexy mimicking epileptic seizures on the long-term video electroencephalography （Poster notice，General） 2017/09/03
113.	Post-mortem pancreatic pathology in a child with MELAS （Speech，General） 2017/06/16
114.	A Japanese nationwide survey on congenital myotonic dystrophy （Poster notice，General） 2017/05/13
115.	Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients study （Poster notice，General） 2017/05/13
116.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy （Poster notice，General） 2017/05/13
117.	Developmental characteristics in early infancy of ASD children （Poster notice，General） 2017/05/12
118.	Outcomes and MR Imaging in neonates with hypoxia-ischemia encephalopalopathy treated by hypothermia （Poster notice，General） 2017/05/12
119.	Symptomatic Epilepsy with chromosome aberration:Report of two cases （Poster notice，General） 2017/05/11
120.	Anti TNF-α therapy for very ealy onset-inflammatory bowel disease:a single center experience in Japan （Poster notice，General） 2016/10/06
121.	Anti TNF-α therapy for very ealy onset-inflammatory bowel disease:a single center experience in Japan （Poster notice，General） 2016/07/07
122.	Brain-Gut axis and microbiota （Speech，Panelist at Symposium/Workshop (Appointed)） 2016/06/04
123.	Effcacy of particular therapy to atypical evolutions of idiopathic focal epilepsy in childhood （Poster notice，General） 2016/06/04
124.	MLC1 mutations in Japanese patients with megalencephalic leukoencephalopathy with subcortical cysts （Speech，General） 2016/06/04
125.	Outcomes and MR imaging in neonates with hypoxis-ischemia encephalopathy treated by hypothermia （Speech，General） 2016/06/04
126.	Symptomatic epilepsy with chromosome aberration : two case reports （Poster notice，General） 2016/06/04
127.	Correlation between MRI STIR image of lower limbs and BIA in the natural course of FCMD patients （Speech，General） 2016/06/03
128.	Developmental characteristics in early infancy of the children with autism spectrum disorders （Poster notice，General） 2016/06/03
129.	Diagnosis and prognosis of the neurometabolic diseases among our department （Poster notice，General） 2016/06/03
130.	Early management for two infantile siblings born to GLUT-1 deficiency mother with SLC2A1 mutation （Poster notice，General） 2016/06/03
131.	Effective antiepileptic drugs for epilepsy in Angelman syndorome （Speech，General） 2016/06/03
132.	Nationwide patient registry of Fukuyama congenital muscular dystrophy in Japan （Poster notice，General） 2016/06/03
133.	Our approach which aimed at ideal transition for muscular dystrophy patients to adult health care （Poster notice，General） 2016/06/03
134.	The gross motor function measure is a valid for Fukuyama congenital muscular dystrophy （Speech，General） 2016/06/03
135.	Time-dependent change of Muscle MRI STIR in Fukuyama congenital muscular dystrophy （Poster notice，General） 2016/06/03
136.	Mutation in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease （Poster notice，General） 2016/04/05
137.	Characteristics of a case of Hb Bicetre 〔β63 CAT(His)-CCT(Pro)〕-high oxygen affinity and instability （Poster notice，General） 2015/11/29
138.	Atypical evolutions of idiopathic focal epilepsy in childhood -incidence and clinical characteristics- （Poster notice，General） 2015/10/31
139.	Efficacy of Ketogenic diet for pharmacoresistant myoclonic epilepsy in infancy （Poster notice，General） 2015/10/30
140.	Usefulness of Cholesterol Oxidation Products as Diagnostic and Follow Up Marker for NPC （Poster notice，General） 2015/05/15
141.	A new KCNT1 mutation in a patient with epilepsy of infancy with migrating focal seizures （Poster notice，General） 2014/11/19
142.	Kawasaki Disease and upper GI microbiota （Speech，Panelist at Symposium/Workshop (Appointed)） 2014/11/01
143.	Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2014/10/09
144.	Natural history of motor function in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2014/10/09
145.	Renal dysfunction in patients with Fukuyama congenital muscular dystrophy （Poster notice，General） 2014/10/09
146.	Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory （Poster notice，General） 2014/10/07
147.	Dravet syndrome 〜The early diagnosisi and primary care strategy in Tokyo Women's Medical University Hospital〜（Speech，Panelist at Symposium/Workshop (Appointed)） 2014/10/03
148.	Efficacy of Rufinamide for intractable epilepsy （Poster notice，General） 2014/10/02
149.	Efficacy of Stiripentol for Dravet syndrome （Poster notice，General） 2014/10/02
150.	Skeletal muscle MRI with fat suppression technique can detect early changes in childhood onset Pompe disease in patients receiving ERT （Poster notice，General） 2014/09/27
151.	Characteristics of infants born to mothers with autoimmune disorders （Poster notice，General） 2014/09/20
152.	Safety and efficacy of adalimumab in a girl with refractory intestinal Behcet's disease （Poster notice，General） 2014/09/19
153.	Clinical Characteristics of West Syndrome (WS) in Infants with Perinatal Brain Damage (PBD) （Poster notice，General） 2014/06/24
154.	TRH therapy for 3 infants with a sequela of exanthema subitum-associated AESD （Speech，General） 2014/05/30
155.	Morphological differences among cells of BBB and implications for two mitochondrial diseases （Speech，General） 2014/05/29
156.	TRH therapy for 4 patients with GLUT-1 deficiency syndrome （Poster notice，General） 2014/05/29
157.	Cytokine increase in the cerebrospinal fluid as the underlying immunological mechanism in a case of Dravet syndrome with acute encephalopathy （Poster notice，General） 2014/02/21
158.	Effect of continuous intake of Lactobacillus casei strain Shirota for controlling infections and fecal microbiota in facilities for the elderly. （Speech，Panelist at Symposium/Workshop (Appointed)） 2014/02/07
159.	Pancreatic involvement in a child with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes(MELAS) （Poster notice，General） 2013/11/07
160.	The first case of infantile-onset spinocerebellar ataxia in Japan caused by novel autosomal recessive Twinkle/C10orf2 mutations （Poster notice，General） 2013/11/06
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■ Education

1.	1981/04～1987/03	Faculty of Medicine, Juntendo University, Graduated
2.	1989/04～1993/03	〔Doctoral course〕〔Doctorial Course〕, Faculty of Medicine, Juntendo University, Completed
3.	1996/09～1998/08	〔Doctoral course〕〔Doctorial Course〕 Paediatric Gastroenterology, Graduate School, Division of Medical Sciences, Postgraduate course, Completed