Found: 203
Select item for more details and to access through your institution.
Immunohistological analysis reveals IgG1-dominant immunophenotype of tubulointerstitial nephritis unassociated with IgG4-related diseases.
- Published in:
- International Urology & Nephrology, 2024, v. 56, n. 7, p. 2363, doi. 10.1007/s11255-024-03966-1
- By:
- Publication type:
- Article
Distinct Expression Profiles of Neuroblastoma-Associated mRNAs in Peripheral Blood and Bone Marrow of Non-High-Risk and High-Risk Neuroblastoma Patients.
- Published in:
- Biology (2079-7737), 2024, v. 13, n. 5, p. 345, doi. 10.3390/biology13050345
- By:
- Publication type:
- Article
Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2024, v. 69, n. 5, p. 604, doi. 10.1002/mus.28073
- By:
- Publication type:
- Article
Tonsillectomy combined with intravenous methylprednisolone pulse for Japanese children with severe IgA vasculitis with nephritis—authors' reply.
- Published in:
- 2024
- By:
- Publication type:
- Letter to the Editor
Rituximab in combination with cyclosporine and steroid pulse therapy for childhood-onset multidrug-resistant nephrotic syndrome: a multicenter single-arm clinical trial (JSKDC11 trial).
- Published in:
- Clinical & Experimental Nephrology, 2024, v. 28, n. 4, p. 337, doi. 10.1007/s10157-023-02431-0
- By:
- Publication type:
- Article
End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00273-0
- By:
- Publication type:
- Article
A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00271-2
- By:
- Publication type:
- Article
Recurrent transient severe hypocalcaemia in two siblings with type 1 Bartter syndrome.
- Published in:
- Nephrology, 2024, v. 29, n. 3, p. 164, doi. 10.1111/nep.14261
- By:
- Publication type:
- Article
Association of perinatal factors with neurodevelopmental referrals in a population-based cohort study in Japan.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54167-w
- By:
- Publication type:
- Article
Association of perinatal factors with neurodevelopmental referrals in a population-based cohort study in Japan.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-54167-w
- By:
- Publication type:
- Article
Factors related to recurrence of proteinuria in childhood IgA nephropathy.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 2, p. 463, doi. 10.1007/s00467-023-06116-4
- By:
- Publication type:
- Article
Range of protein induced by vitamin K absence or antagonist-II levels in neonates at birth.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-51674-8
- By:
- Publication type:
- Article
Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.
- Published in:
- SAGE Open Medical Case Reports, 2024, p. 1, doi. 10.1177/2050313X231221436
- By:
- Publication type:
- Article
Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report.
- Published in:
- 2024
- By:
- Publication type:
- Case Study
Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.
- Published in:
- Genes, 2023, v. 14, n. 12, p. 2211, doi. 10.3390/genes14122211
- By:
- Publication type:
- Article
Long-term outcome of combination therapy with corticosteroids, mizoribine and RAS inhibitors as initial therapy for severe childhood IgA vasculitis with nephritis.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 12, p. 4023, doi. 10.1007/s00467-023-06052-3
- By:
- Publication type:
- Article
iPSC-derived type IV collagen α5-expressing kidney organoids model Alport syndrome.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05203-4
- By:
- Publication type:
- Article
Timing of therapeutic interventions against infection-triggered encephalopathy syndrome: a scoping review of the pediatric literature.
- Published in:
- Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1150868
- By:
- Publication type:
- Article
All reported non-canonical splice site variants in GLA cause aberrant splicing.
- Published in:
- Clinical & Experimental Nephrology, 2023, v. 27, n. 9, p. 737, doi. 10.1007/s10157-023-02361-x
- By:
- Publication type:
- Article
Investigation of the current situation regarding diagnosis and treatment of Alport syndrome in Asian countries: results of survey of the Asian Paediatric Nephrology association (AsPNA) tubular and inherited working group.
- Published in:
- Clinical & Experimental Nephrology, 2023, v. 27, n. 9, p. 776, doi. 10.1007/s10157-023-02358-6
- By:
- Publication type:
- Article
Higher levels of minimal residual disease in peripheral blood than bone marrow before 1st and 2nd relapse/regrowth in a patient with high‑risk neuroblastoma: A case report.
- Published in:
- Oncology Letters, 2023, v. 26, n. 3, p. N.PAG, doi. 10.3892/ol.2023.13955
- By:
- Publication type:
- Article
X-linked Alport Syndrome with Type IV Collagen a5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman's Capsule and Distal Tubular Basement Membrane: A Case Report.
- Published in:
- Tohoku Journal of Experimental Medicine, 2023, v. 261, n. 1, p. 69, doi. 10.1620/tjem.2023.J060
- By:
- Publication type:
- Article
Association of Familial Fanconi Syndrome with a Novel GATM Variant.
- Published in:
- Tohoku Journal of Experimental Medicine, 2023, v. 260, n. 4, p. 337, doi. 10.1620/tjem.2023.J046
- By:
- Publication type:
- Article
Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-38588-7
- By:
- Publication type:
- Article
Pseudo-Bartter syndrome in an infant without obvious underlying conditions: A case report.
- Published in:
- Clinical Pediatric Endocrinology, 2023, v. 32, n. 3, p. 155, doi. 10.1297/cpe.2022-0069
- By:
- Publication type:
- Article
Is influenza vaccination associated with nephrotic syndrome relapse in children? A multicenter prospective study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 7, p. 2107, doi. 10.1007/s00467-022-05783-z
- By:
- Publication type:
- Article
Steroid resistant nephrotic syndrome with collapsing focal segmental glomerulosclerosis in a 12-year-old Japanese female after SARS-CoV-2 vaccination.
- Published in:
- Journal of Nephrology (JNonline), 2023, v. 36, n. 5, p. 1435, doi. 10.1007/s40620-023-01577-0
- By:
- Publication type:
- Article
Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2023, v. 49, n. 6, p. 1624, doi. 10.1111/jog.15634
- By:
- Publication type:
- Article
Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.
- Published in:
- Clinical & Experimental Nephrology, 2023, v. 27, n. 3, p. 218, doi. 10.1007/s10157-022-02294-x
- By:
- Publication type:
- Article
Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13 , 2110.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Bartter Syndrome Type 1 Due to Novel SLC12A1 Mutations Associated With Pseudohypoparathyroidism Type II.
- Published in:
- JCEM Case Reports, 2023, v. 1, n. 2, p. 1, doi. 10.1210/jcemcr/luad019
- By:
- Publication type:
- Article
Clinical and pathological investigation of oligomeganephronia.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 3, p. 757, doi. 10.1007/s00467-022-05687-y
- By:
- Publication type:
- Article
Vertical Transmission of Coxsackievirus A6 with Severe Congenital Pneumonia/Sepsis.
- Published in:
- International Journal of Environmental Research & Public Health, 2023, v. 20, n. 4, p. 2843, doi. 10.3390/ijerph20042843
- By:
- Publication type:
- Article
4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
Kidney Histology Findings in a Patient with Autosomal Dominant Tubulointerstitial Kidney Disease Subtype Hepatocyte Nuclear Factor 1β.
- Published in:
- Internal Medicine, 2023, v. 62, n. 3, p. 419, doi. 10.2169/internalmedicine.9364-22
- By:
- Publication type:
- Article
Clinical and laboratory characteristics of complex febrile seizures in the acute phase: a case-series study in Japan.
- Published in:
- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03051-7
- By:
- Publication type:
- Article
Time course of serum cytokine level changes within 72 h after onset in children with acute encephalopathy and febrile seizures.
- Published in:
- BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-022-03048-8
- By:
- Publication type:
- Article
Evaluation of screening with urine dipsticks and renal ultrasonography for 3-year-olds in Chiba City over 30 years.
- Published in:
- Clinical & Experimental Nephrology, 2022, v. 26, n. 12, p. 1208, doi. 10.1007/s10157-022-02265-2
- By:
- Publication type:
- Article
Screening for Fabry disease among male patients on hemodialysis in Awaji Island.
- Published in:
- Therapeutic Apheresis & Dialysis, 2022, v. 26, n. 6, p. 1187, doi. 10.1111/1744-9987.13834
- By:
- Publication type:
- Article
Impact after the Change from Voluntary to Universal Oral Rotavirus Vaccination on Consecutive Emergency Department Visits for Acute Gastroenteritis among Children in Kobe City, Japan (2016–2022).
- Published in:
- Vaccines, 2022, v. 10, n. 11, p. 1831, doi. 10.3390/vaccines10111831
- By:
- Publication type:
- Article
Influence of UGT1A1 Genetic Variants on Free Bilirubin Levels in Japanese Newborns: A Preliminary Study.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 20, p. 13090, doi. 10.3390/ijerph192013090
- By:
- Publication type:
- Article
Detecting pathogenic deep intronic variants in Gitelman syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2576, doi. 10.1002/ajmg.a.62885
- By:
- Publication type:
- Article
Neonatal Pseudohypoaldosteronism Type-1 in Japan.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 17, p. 5135, doi. 10.3390/jcm11175135
- By:
- Publication type:
- Article
An updated view of the pathogenesis of steroid-sensitive nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 9, p. 1957, doi. 10.1007/s00467-021-05401-4
- By:
- Publication type:
- Article
Use of renin-angiotensin system inhibitors as initial therapy in children with Henoch–Schönlein purpura nephritis of moderate severity.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 8, p. 1845, doi. 10.1007/s00467-021-05395-z
- By:
- Publication type:
- Article
Oral Valganciclovir Therapy in Infants Aged ≤2 Months with Congenital Cytomegalovirus Disease: A Multicenter, Single-Arm, Open-Label Clinical Trial in Japan.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 13, p. 3582, doi. 10.3390/jcm11133582
- By:
- Publication type:
- Article
Long use of continuous positive airway pressure protects against the development of treatment-requiring retinopathy of prematurity.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-11509-w
- By:
- Publication type:
- Article
Clinical, pathological, and genetic characteristics of cases with asymptomatic proteinuria not manifesting nephrotic syndrome at onset: a single-center retrospective study.
- Published in:
- Clinical & Experimental Nephrology, 2022, v. 26, n. 5, p. 453, doi. 10.1007/s10157-021-02174-w
- By:
- Publication type:
- Article
Maturity‐onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case.
- Published in:
- Journal of Diabetes Investigation, 2022, v. 13, n. 5, p. 923, doi. 10.1111/jdi.13737
- By:
- Publication type:
- Article
The association between prehospital vital signs of children and their critical clinical outcomes at hospitals.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09271-0
- By:
- Publication type:
- Article