Fumihito Nozaki
Moriyama, Japan
Last Updated: 09/26/2026
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Found 30 publications
Age and gender-specific reference intervals for uric acid level and hyperuricemia in children with Down syndrome.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: May 16, 2024
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
Journal: Journal of neurology
Published: January 18, 2022
Advantage of a higher position of the tracheostoma with glottic closure for preventing complications related to tracheostomy tube: a retrospective cohort study.
Journal: BMC surgery
Published: October 13, 2021
Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis.
Journal: Brain & development
Published: September 28, 2020
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
Journal: Clinical genetics
Published: February 27, 2020
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Journal: Journal of medical genetics
Published: February 03, 2020
Risk Factors for Cerebral Infarction in Duchenne Muscular Dystrophy: Review With our 2 Cases.
Journal: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
Published: March 14, 2019
Cumulative jerk as an outcome measure in nonambulatory Duchenne muscular dystrophy.
Journal: Brain & development
Published: February 13, 2019
Sudden spinal hemorrhage in a pediatric case with total body irradiation-induced cavernous hemangioma.
Journal: Pediatric blood & cancer
Published: February 20, 2018
A patient with Joubert syndrome who developed sleep-related breathing disorder at 15 years of age.
Journal: No to hattatsu = Brain and development
Published: November 01, 2016
Effects and limits of acute noninvasive positive pressure ventilation in children with severe motor and intellectual disabilities with pneumonia/bronchitis.
Journal: No to hattatsu = Brain and development
Published: November 01, 2016
Left ventricular noncompaction cardiomyopathy in a patient with trisomy 13: A report and review of the literature.
Journal: American journal of medical genetics. Part A
Published: August 18, 2016
Last Updated: 09/26/2026