Sachiko Kitanaka

Tokyo, Japan

Last Updated: 09/26/2026

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Found 38 publications

A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient.

A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient.

Journal: Hormone research in paediatrics

Published: November 23, 2023

Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23.

Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23.

Journal: Journal of bone and mineral metabolism

Published: May 16, 2021

The Boy:Girl Ratio of Children Diagnosed with Growth Hormone Deficiency-Induced Short Stature Is Associated with the Boy:Girl Ratio of Children Visiting Short Stature Clinics.

The Boy:Girl Ratio of Children Diagnosed with Growth Hormone Deficiency-Induced Short Stature Is Associated with the Boy:Girl Ratio of Children Visiting Short Stature Clinics.

Journal: Hormone research in paediatrics

Published: April 23, 2021

Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes.

Novel de novo MYRF gene mutation: A possible cause for several clinically overlapping syndromes.

Journal: Congenital anomalies

Published: July 09, 2020

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

Journal: European journal of human genetics : EJHG

Published: October 16, 2019

Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route.

Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: October 14, 2019

Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector.

Robust and highly efficient hiPSC generation from patient non-mobilized peripheral blood-derived CD34+ cells using the auto-erasable Sendai virus vector.

Journal: Stem cell research & therapy

Published: March 20, 2019

Familial dysalbuminemic hyperthyroxinemia in a 12-year-old girl.

Familial dysalbuminemic hyperthyroxinemia in a 12-year-old girl.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 30, 2018

Rickets/Osteomalacia. Vitamin D dependency.

Rickets/Osteomalacia. Vitamin D dependency.

Journal: Clinical calcium

Published: October 01, 2018

Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.

Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.

Journal: Molecular genetics and metabolism

Published: March 21, 2018

Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan.

Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan.

Journal: Endocrine journal

Published: March 13, 2018

A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.

A familial case of nail patella syndrome with a heterozygous in-frame indel mutation in the LIM domain of LMX1B.

Journal: Journal of dermatological science

Published: September 15, 2017

Showing 1-12 of 38

Last Updated: 09/26/2026