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Publications by Masafumi Izui

A Case of Perinatal Hypophosphatasia With a Novel Mutation in the ALPL Gene: Clinical Course and Review of the Literature

Clinical Pediatric Endocrinology

English

Related publications

Case Report of Lethal Perinatal Hypophosphatasia With Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation

Neonatal Medicine

English

A Novel Homozygous Frame-Shift Mutation in the SLC29A3 Gene: A New Case Report and Review of Literature

BMC Medical Genetics

English

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

Frontiers in Immunology

English

Perinatal Pathology in the Context of a Clinical Trial: A Review of the Literature

Archives of Disease in Childhood: Fetal and Neonatal Edition

English

Clinical Characteristics of Perinatal Lethal Hypophosphatasia: A Report of 6 Cases

Clinical Pediatric Endocrinology

English

IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature

Allergy, Asthma and Clinical Immunology

Respiratory Medicine

English

A Rare Malignant Thyroid Carcinosarcoma With Aggressive Behavior and DICER1 Gene Mutation: A Case Report With Literature Review

Thyroid Research

Autonomic Systems

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English

Long‑term Follow‑up and Clinical Course of a Rare Case of Vonï¿½Hippel‑Lindau Disease: A Case Report and Review of the Literature

Oncology Letters

Cancer Research

English