Kimihiko Oishi

Medical Genetics | Pediatrics
1 Gustave L Levy Pl
Box 1512
New York, NY 10029

Last Updated: 09/26/2026

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Found 39 publications

A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.

A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.

Journal: Biochemical and biophysical research communications
Published: July 16, 2026

Resources and care structures for management of urea cycle disorders in Japan and the United States: A system-level comparison.

Resources and care structures for management of urea cycle disorders in Japan and the United States: A system-level comparison.

Journal: Molecular genetics and metabolism
Published: February 28, 2026

Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study.

Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study.

Journal: Frontiers in endocrinology
Published: February 20, 2026

Acute tubulointerstitial nephritis following a coronavirus disease 2019 vaccine booster dose: a pediatric case report.

Acute tubulointerstitial nephritis following a coronavirus disease 2019 vaccine booster dose: a pediatric case report.

Journal: CEN case reports
Published: February 20, 2026

Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.

Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities.

Journal: American journal of medical genetics. Part A
Published: February 17, 2026

Continuous succinate administration induces eosinophilic enteritis via the tuft cell-IL-25 axis in mice.

Continuous succinate administration induces eosinophilic enteritis via the tuft cell-IL-25 axis in mice.

Journal: Allergology international : official journal of the Japanese Society of Allergology
Published: January 14, 2026

Relatively high prevalence of subclinical iron deficiency in Japanese children: evidence from a preoperative screening cohort.

Relatively high prevalence of subclinical iron deficiency in Japanese children: evidence from a preoperative screening cohort.

Journal: BMC pediatrics
Published: December 21, 2025

Pitfalls in Coagulation Testing: A Pediatric Case of Lupus Anticoagulant Hypoprothrombinemia Syndrome Following Enterocolitis.

Pitfalls in Coagulation Testing: A Pediatric Case of Lupus Anticoagulant Hypoprothrombinemia Syndrome Following Enterocolitis.

Journal: Cureus
Published: September 18, 2025

The Risk of Colonoscopy-related Bleeding in Patients With or Without Continued Treatment With an Antithrombotic Agent.

The Risk of Colonoscopy-related Bleeding in Patients With or Without Continued Treatment With an Antithrombotic Agent.

Journal: DEN open
Published: March 23, 2025

JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease.

JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease.

Journal: The Journal of allergy and clinical immunology
Published: March 09, 2025

Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child.

Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child.

Journal: Cureus
Published: February 03, 2025

Effective Treatment With Oral Propranolol for Congenital Intracranial Hemangioma in a Neonate: A Case Report and Literature Review.

Effective Treatment With Oral Propranolol for Congenital Intracranial Hemangioma in a Neonate: A Case Report and Literature Review.

Journal: Cureus
Published: December 16, 2024
Showing 1-12 of 39

Last Updated: 09/26/2026