Kandai Nozu

Chuo, 6500017, Japan

Last Updated: 09/26/2026

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Found 408 publications

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Journal: Pediatric nephrology (Berlin, Germany)

Published: May 30, 2026

Delay in benzodiazepine administration is associated with increased need for anesthetic coma therapy in children with febrile status epilepticus.

Delay in benzodiazepine administration is associated with increased need for anesthetic coma therapy in children with febrile status epilepticus.

Journal: Epilepsy research

Published: May 27, 2026

Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report.

Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report.

Journal: Kidney medicine

Published: April 24, 2026

Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.

Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.

Journal: Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine

Published: April 17, 2026

Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.

Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.

Journal: Clinical and experimental nephrology

Published: April 02, 2026

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.

Journal: CEN case reports

Published: March 15, 2026

Functional Analysis of a Novel Pathogenic Glycine Amidinotransferase Mutant in Hereditary Fanconi Syndrome.

Functional Analysis of a Novel Pathogenic Glycine Amidinotransferase Mutant in Hereditary Fanconi Syndrome.

Journal: Kidney medicine

Published: March 05, 2026

Pediatric Mixed-Phenotype Acute Leukemia in a Patient With Lowe Syndrome.

Pediatric Mixed-Phenotype Acute Leukemia in a Patient With Lowe Syndrome.

Journal: Pediatric blood & cancer

Published: March 04, 2026

High prevalence of genetic variants in asymptomatic proteinuria detected via urine screening in 3-year-old children in Japan.

High prevalence of genetic variants in asymptomatic proteinuria detected via urine screening in 3-year-old children in Japan.

Journal: Pediatric nephrology (Berlin, Germany)

Published: February 24, 2026

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Journal: Kidney international reports

Published: February 17, 2026

A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome.

A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome.

Journal: Brain & development

Published: January 15, 2026

Four-year neurodevelopmental outcomes in infants with symptomatic congenital cytomegalovirus disease treated with oral valganciclovir: A prospective follow-up study in Japan.

Four-year neurodevelopmental outcomes in infants with symptomatic congenital cytomegalovirus disease treated with oral valganciclovir: A prospective follow-up study in Japan.

Journal: Brain & development

Published: January 12, 2026

Showing 1-12 of 408

Last Updated: 09/26/2026