Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A. Braun, Jia Rao, Géraldine Mollet, +98

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsNephrotic Syndrome +3

Screening Young Children with a First Febrile Urinary Tract Infection for High-grade Vesicoureteral Reflux with Renal Ultrasound Scanning and Technetium-99m-labeled Dimercaptosuccinic Acid Scanning

Ming-Dar Lee, Chun-Chen Lin, Tsuen‐Chiuan Tsai, +2

The Journal of Pediatrics

Urogenital RadiologyUrological ResearchUrologyDiagnosisPediatrics +7

Genotype, Phenotype, and Follow-Up in Taiwanese Patients with Salt-Losing Tubulopathy Associated with<i>SLC12A3</i>Mutation

Min‐Hua Tseng, Sung-Sen Yang, Yu‐Juei Hsu, +5

The Journal of Clinical Endocrinology & Metabolism

Intermittent Hydronephrosis Secondary to Ureteropelvic Junction Obstruction: Clinical and Imaging Features

Jeng-Daw Tsai, Chun-Chen Lin, Tsuen‐Chiuan Tsai, +3

PEDIATRICS

Screening high-grade vesicoureteral reflux in young infants with a febrile urinary tract infection

Jeng-Daw Tsai, Chang-Ting Huang, Pei‐Yi Lin, +7

Pediatric Nephrology

UrologyNeonatologyYoung InfantsGastroenterologyPediatrics +4

Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis

Yi‐Fen Lo, Sung-Sun Yang, George Seki, +8

Kidney International

Renal FunctionEarly LethalityMedicinePhysiologySevere Metabolic Acidosis +9

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

Chin‐Yuan Tzen, Jeng-Daw Tsai, Tsu‐Yen Wu, +4

Kidney International

Glomerular DiseaseGlomerulonephritisTubulointerstitial NephritisUrologyPathogenesis +6

Asian guidelines for urinary tract infection in children

Stephen Shei‐Dei Yang, Jeng-Daw Tsai, Akihiro Kanematsu, +1

Journal of Infection and Chemotherapy

UrologyAsian GuidelinesAntibioticsHealthcare-associated InfectionPediatrics +3

Asymptomatic vesicoureteral reflux detected by neonatal ultrasonographic screening

Jeng-Daw Tsai, Tsuen‐Chiuan Tsai

Pediatric Nephrology

EsophagusPediatricsDiagnosisGastroenterologyPediatric Gastroenterology +5

Renal Calcification in Very Low Birth Weight Infants

Hung‐Yang Chang, Chyong-Hsin Hsu, Jeng-Daw Tsai, +6

Pediatrics & Neonatology