723 results on '"Ihara, Kenji"'
Search Results
2. Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model
3. Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
4. Behavioral and neurotransmitter changes on antiepileptic drugs treatment in the zebrafish pentylenetetrazol-induced seizure model
5. Diabetic lipemia as a predisposing state to acute pancreatitis: a case report and literature review
6. Clinical characteristics of preterm and term infants with Ureaplasma in gastric fluid
7. Abnormal bone marrow T1-weighted MRI images in a pediatric patient with acute lymphoblastic leukemia without peripheral blasts
8. Long-term trends of pediatric type 1 diabetes incidence in Japan before and after the COVID-19 pandemic
9. Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites
10. Rituximab-induced serum sickness in a girl with nephrotic syndrome
11. Myocarditis in 13-Year-Old Monochorionic Diamniotic Twins After COVID-19 Vaccination
12. Early defibrotide therapy and risk factors for post‐transplant veno‐occlusive disease/sinusoidal obstruction syndrome in childhood.
13. Severity of Acute Kawasaki Disease Can Be Predicted by Evaluating the Body Temperature at the Completion of an Initial Immunoglobulin Treatment.
14. Topoisomerase IIβ immunoreactivity (IR) co-localizes with neuronal marker-IR but not glial fibrillary acidic protein-IR in GLI3-positive medulloblastomas: an immunohistochemical analysis of 124 medulloblastomas from the Japan Children’s Cancer Group
15. Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period
16. A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess
17. Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening
18. Safe management of acute respiratory failure by mediastinal lymphoma: Transient endotracheal stent placement with short-term extracorporeal membrane oxygenation
19. A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish
20. Leucyl-tRNA synthetase deficiency systemically induces excessive autophagy in zebrafish
21. Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion
22. A case of CHARGE syndrome associated with hyperinsulinemic hypoglycemia in infancy
23. A severe pulmonary complication in a patient with COL4A1-related disorder: A case report
24. Circulating tricarboxylic acid cycle metabolite levels in citrin-deficient children with metabolic adaptation, with and without sodium pyruvate treatment
25. Identification of Mutations in the c-mpl Gene in Congenital Amegakaryocytic Thrombocytopenia
26. Neuropathological hallmarks in autopsied cases with mitochondrial diseases caused by the mitochondrial 3243A>G mutation
27. Predicting Long-Term Ventricular Arrhythmia Risk in Children with Acute Lymphoblastic Leukemia Using Normal Values of Ventricular Repolarization Markers Established from Japanese Cohort Study
28. Gastric Carcinoma as Second Malignant Neoplasm in a Survivor From High-risk Neuroblastoma
29. A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations
30. Infantile Hypothalamic Hamartoma: A Rare Presentation of Isolated Obesity.
31. TYK2 Promoter Variant and Diabetes Mellitus in the Japanese
32. The clinical characteristics of Asian patients with classical-type Hutchinson–Gilford progeria syndrome
33. Comparison of physician- and self-assessed pubertal onset in Japanese children
34. Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients
35. Multifaceted support for quality of life in childhood cancer survivors: Questionnaire survey
36. Kawasaki disease complicated with posterior reversible encephalopathy syndrome
37. Serum Amino Acid Profiling in Citrin-Deficient Children Exhibiting Normal Liver Function During the Apparently Healthy Period
38. Therapeutic potential of hepatocyte-like-cells converted from stem cells from human exfoliated deciduous teeth in fulminant Wilson’s disease
39. Cardiac manifestations of human ACTA2variants recapitulated in a zebrafish model
40. De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
41. A Seven-Year-Old Girl With Dysphagia Due to Fear of Swallowing: A Favorable Outcome With Cognitive Behavioral Therapy Using an Anxiety Hierarchy Chart
42. An Algorithm for the Detection of General Movements of Preterm Infants Based on the Instantaneous Heart Rate
43. Acute myeloid leukemia associated with CHARGE syndrome
44. Pancreatoblastoma with a novel fusion gene of IQSEC1‐RAF1
45. Secular Trends in Obesity and Serum Lipid Values among Children in Oita City, Japan, during a 27-Year Period
46. Long-term trends of pediatric type 1 diabetes incidence in Japan: before and during the COVID- 19 pandemic years (1999–2021)
47. Left ventricular efficiency after ligation of patent ductus arteriosus for premature infants
48. Fatigue and quality of life in citrin deficiency during adaptation and compensation stage
49. Coagulopathy by vitamin K deficiency: Clinical pitfall in a case with cerebral palsy under long-term enteral nutrition
50. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin‐requiring antibody‐negative type 1 diabetes
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