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Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2024, Vol.33 (1), p.17-22

2024

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Patient Report: A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1[2]

Pediatrics international, 2005-12, Vol.47 (6), p.687

2005

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Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2022, Vol.31 (3), p.185-191

2022

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A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1

Pediatrics International, 2005, Vol.47 (6), p.687-690

2005

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3D fat-suppressed T1-weighted volume isotropic turbo spin-echo acquisition (VISTA) imaging for the evaluation of the ectopic posterior pituitary gland

A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups

Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio

Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV

Familial episodic limb pain in kindreds with novel Nav1.9 mutations

A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups

A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups

An autopsy case of an adult woman with Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHAD(NET)) syndrome developing nonalcoholic steatohepatitis and hepatocellular carcinoma: A case report

A novel mutation of the PHKA2 gene in a patient with X‐linked liver glycogenosis type 1

Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder : Correlation between goiter size and the free T3 to free T4 ratio

Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio

Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding

A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups

Patient Report: A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1[2]

Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio

A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1

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