Found: 48
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Neonatal Jaundice in Preterm Infants with Bilirubin Encephalopathy.
- Published in:
- Neonatology (16617800), 2021, v. 118, n. 3, p. 301, doi. 10.1159/000513785
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- Publication type:
- Article
Steroid pulse therapy for Kawasaki disease complicated with myocarditis.
- Published in:
- Indian Pediatrics, 2016, v. 53, n. 11, p. 1015, doi. 10.1007/s13312-016-0979-9
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- Publication type:
- Article
Epstein-Barr virus-related lymphoproliferative disorder, cytomegalovirus reactivation, and varicella zoster virus encephalitis during treatment of medulloblastoma.
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- Journal of Medical Virology, 2011, v. 83, n. 9, p. 1582, doi. 10.1002/jmv.22136
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- Publication type:
- Article
Current status of neonatal jaundice management in Japan.
- Published in:
- Pediatrics International, 2023, v. 65, n. 1, p. 1, doi. 10.1111/ped.15617
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- Publication type:
- Article
Highest concentration of breast-milk-derived exosomes in colostrum.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15346
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- Publication type:
- Article
Remitted epilepsy with dysembryoplastic neuroepithelial tumor involving the thalamus.
- Published in:
- Pediatrics International, 2016, v. 58, n. 6, p. 496, doi. 10.1111/ped.12911
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- Publication type:
- Article
Escherichia coli O121:H19 infection identified on microagglutination assay and PCR.
- Published in:
- Pediatrics International, 2015, v. 57, n. 5, p. 1001, doi. 10.1111/ped.12699
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- Publication type:
- Article
Neonatal Meckel diverticulum: Obstruction due to a short mesodiverticular band.
- Published in:
- Pediatrics International, 2015, v. 57, n. 5, p. 1007, doi. 10.1111/ped.12694
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- Publication type:
- Article
Severe hyperbilirubinemia in a 10-year-old girl with a combined disorder of hereditary spherocytosis and Gilbert syndrome.
- Published in:
- Pediatrics International, 2007, v. 49, n. 4, p. 540, doi. 10.1111/j.1442-200X.2007.02410.x
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- Publication type:
- Article
Six novel UDP-glucuronosyltransferase (UGT1A3) polymorphisms with varying activity.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 3, p. 123, doi. 10.1007/s10038-003-0119-y
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- Publication type:
- Article
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice‐disrupting JMJD1C variant that led to 21 bp deletion of the transcript.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3064, doi. 10.1002/ajmg.a.61892
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- Publication type:
- Article
Bex1 is essential for ciliogenesis and harbours biomolecular condensate-forming capacity.
- Published in:
- BMC Biology, 2022, v. 20, n. 1, p. 1, doi. 10.1186/s12915-022-01246-x
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- Publication type:
- Article
Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young.
- Published in:
- Journal of Diabetes Investigation, 2019, v. 10, n. 6, p. 1586, doi. 10.1111/jdi.13046
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- Publication type:
- Article
Transient Congenital Hypothyroidism Caused by Biallelic Mutations of the Dual Oxidase 2 Gene in Japanese Patients Detected by a Neonatal Screening Program.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 11, p. 4261, doi. 10.1210/jc.2008-0856
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- Publication type:
- Article
A Novel Missense Mutation of the Bilirubin UDP-Glucuronosyltransferase Gene in a Turkish Patient With Crigler-Najjar Syndrome Type 1.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2003, v. 37, n. 5, p. 627, doi. 10.1097/00005176-200311000-00024
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- Publication type:
- Article
Two linked polymorphic mutations (A(TA)7TAA and T-3279G) ofUGT1A1as the principal cause of Gilbert syndrome.
- Published in:
- Human Genetics, 2004, v. 115, n. 6, p. 525, doi. 10.1007/s00439-004-1183-x
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- Publication type:
- Article
Successful unrelated umbilical cord blood cell transplantation without conditioning for a neonate with severe combined immunodeficiency.
- Published in:
- Pediatric Transplantation, 2011, v. 15, n. 7, p. E152, doi. 10.1111/j.1399-3046.2010.01344.x
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- Publication type:
- Article
Effect of intravitreal bevacizumab for retinopathy of prematurity on weight gain.
- Published in:
- PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0261095
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- Publication type:
- Article
Systemic adverse events after screening of retinopathy of prematurity with mydriatic.
- Published in:
- PLoS ONE, 2021, v. 16, n. 9, p. 1, doi. 10.1371/journal.pone.0256878
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- Publication type:
- Article
Gm14230 controls Tbc1d24 cytoophidia and neuronal cellular juvenescence.
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- PLoS ONE, 2021, v. 16, n. 4, p. 1, doi. 10.1371/journal.pone.0248517
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- Publication type:
- Article
(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 6, p. 590, doi. 10.1093/ejendo/lvad163
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- Publication type:
- Article
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.
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- European Journal of Endocrinology, 2016, v. 174, n. 4, p. 453, doi. 10.1530/EJE-15-0959
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- Publication type:
- Article
Uptake of further investigations following universal urinary screening among elementary and junior high school students in Shiga Prefecture, Japan: A retrospective cohort study.
- Published in:
- Nephrology, 2020, v. 25, n. 8, p. 599, doi. 10.1111/nep.13710
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- Publication type:
- Article
Fasting-associated urticaria and/or anaphylaxis: A case report.
- Published in:
- Arerugi: Japanese Journal of Allergology, 2021, v. 70, n. 2, p. 271, doi. 10.1016/j.alit.2020.09.006
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- Publication type:
- Article
Development of rhabdomyolysis in a child after norovirus gastroenteritis.
- Published in:
- BMC Pediatrics, 2016, v. 16, p. 1, doi. 10.1186/s12887-016-0720-9
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- Publication type:
- Article
Effect of a conserved mutation in uridine diphosphate glucuronosyltransferase 1A1 and 1A6 on glucuronidation of a metabolite of flutamide.
- Published in:
- European Journal of Clinical Pharmacology, 2002, v. 58, n. 1, p. 11, doi. 10.1007/s00228-001-0417-2
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- Publication type:
- Article
Effect of Common Exon Variant (p.P364L) on Drug Glucuronidation by the Human UDP-Glucuronosyltransferase 1 Family.
- Published in:
- Basic & Clinical Pharmacology & Toxicology, 2011, v. 109, n. 6, p. 486, doi. 10.1111/j.1742-7843.2011.00754.x
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- Publication type:
- Article
Effect of D256N and Y483D on Propofol Glucuronidation by Human Uridine 5′-diphosphate Glucuronosyltransferase (UGT1A9).
- Published in:
- Basic & Clinical Pharmacology & Toxicology, 2008, v. 103, n. 2, p. 131, doi. 10.1111/j.1742-7843.2008.00247.x
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- Publication type:
- Article
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
- Published in:
- Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-020-00865-x
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- Publication type:
- Article
Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
- Published in:
- International Journal of Hematology, 2022, v. 116, n. 4, p. 635, doi. 10.1007/s12185-022-03375-z
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- Publication type:
- Article
Using dynamic digital radiography to assess pulmonary circulation imaging in a patient with congenital heart disease.
- Published in:
- 2022
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- Publication type:
- Case Study
Crigler-Najjar Syndrome Type II Caused by a Homozygous Triple Mutation [T-3279G, A(TA)7TAA, and H39D] of UGT1A1.
- Published in:
- Journal of Pediatric Gastroenterology & Nutrition, 2006, v. 42, n. 2, p. 236, doi. 10.1097/01.mpg.0000184922.09389.0a
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- Publication type:
- Article
Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.
- Published in:
- Pediatric Diabetes, 2012, v. 13, n. 1, p. 26, doi. 10.1111/j.1399-5448.2011.00827.x
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- Publication type:
- Article
Citrullinated fibrinogen is a target of auto-antibodies in interstitial lung disease in mice with collagen-induced arthritis.
- Published in:
- International Immunology, 2020, v. 32, n. 8, p. 533, doi. 10.1093/intimm/dxaa021
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- Publication type:
- Article
Short-Term Changes in Intraocular Pressure After Intravitreal Injection of Bevacizumab for the Treatment of Retinopathy of Prematurity.
- Published in:
- Clinical Ophthalmology, 2019, v. 13, p. 2445, doi. 10.2147/OPTH.S229708
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- Publication type:
- Article
Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
- Published in:
- 2015
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- Publication type:
- Case Study
A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
- Published in:
- World Journal of Pediatrics, 2015, v. 11, n. 2, p. 181, doi. 10.1007/s12519-015-0020-8
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- Publication type:
- Article
Changes in fetal growth restriction and retinopathy of prematurity during the coronavirus disease 2019 pandemic: A cross-sectional study.
- Published in:
- PLoS ONE, 2022, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0265147
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- Publication type:
- Article
Siblings of neonatal hyperbilirubinemia with UGT1A1 double missense variants.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 3, p. 195, doi. 10.1297/cpe.2024-0028
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- Publication type:
- Article
Use of a long-term continuous glucose monitor for predicting sulfonylurea dose in patients with neonatal diabetes mellitus: a case series.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 3, p. 131, doi. 10.1297/cpe.2023-0062
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- Publication type:
- Article
Combined effect of regulatory polymorphisms on transcription of UGT1A1 as a cause of Gilbert syndrome.
- Published in:
- 2010
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- Publication type:
- journal article
Combined effect of regulatory polymorphims on transcription of UGT1A1 as a cause of Gilbert syndrome.
- Published in:
- BMC Gastroenterology, 2010, v. 10, p. 57, doi. 10.1186/1471-230X-10-57
- By:
- Publication type:
- Article
Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report.
- Published in:
- BMC Endocrine Disorders, 2016, v. 16, p. 1, doi. 10.1186/s12902-015-0081-7
- By:
- Publication type:
- Article
Successful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report.
- Published in:
- BMC Endocrine Disorders, 2016, v. 16, p. 1, doi. 10.1186/s12902-015-0081-7
- By:
- Publication type:
- Article
Blood neutrophil-to-lymphocyte ratio as a risk factor in treatment for retinopathy of prematurity.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 4, p. 951, doi. 10.1007/s00417-022-05902-4
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- Publication type:
- Article
Association between treatment for retinopathy of prematurity and blood monocyte counts.
- Published in:
- Japanese Journal of Ophthalmology, 2023, v. 67, n. 4, p. 382, doi. 10.1007/s10384-023-00992-x
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- Publication type:
- Article
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.
- Published in:
- Journal of Gastroenterology & Hepatology, 2016, v. 31, n. 2, p. 403, doi. 10.1111/jgh.13071
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- Publication type:
- Article
Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler–Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects.
- Published in:
- Journal of Gastroenterology & Hepatology, 2004, v. 19, n. 9, p. 1023, doi. 10.1111/j.1440-1746.2004.03370.x
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- Publication type:
- Article