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Clinical Case Reports|April 22, 2026
A Bedside Compression Test to Differentiate Pulsatile Varicose VeinsManabu Ida, Takeshi UedaNeuropediatrics|May 28, 2026
Successful treatment of epileptic spasms with perampanel in a patient with Menkes disease caused by a novel splice variant in intron of ATP7AHiroaki Yoshida, Hidehito Kondo, Naoko Yano, et al.International Heart Journal|September 4, 2020
Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene VariantsAya Miura, Hidehito Kondo, Takuma Yamamoto, et al.Forensic Science, Medicine, and Pathology|June 1, 2022
Sudden death of a 2-year-old child due to alpha-ketoadipic aciduriaHiroki Kondou, Hiroaki Ichioka, Yoshihisa Akasaka, et al.Neuropediatrics|June 1, 2022
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 VariantDaisuke Uda, Hidehito Kondo, Koichi Tanda, et al.Journal of Human Genetics|April 5, 2018
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation typeKaori Irahara-Miyana, Takanobu Otomo, Hidehito Kondo, et al.Endocrine Journal|April 23, 2026
Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literatureYuki Yamada, Hidehito Kondo, Masashi Nishida, et al.Brain & Development|May 9, 2021
Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compressionSachiko Nakaoka, Hidehito Kondo, Keiko Matsuoka, et al.Brain & Development|September 11, 2019
Early infantile-onset Leigh syndrome complicated with infantile spasms associated with the m.9185 T > C variant in the MT-ATP6 gene: Expanding the clinical spectrumRei Takada, Takenori Tozawa, Hidehito Kondo, et al.The American Journal of Case Reports|April 13, 2023
Severe Hemolytic Anemia and Metabolic Acidosis at Birth with Glutathione Synthetase Deficiency and Progressive Neurological Symptoms on Follow-UpSatoshi Ekuni, Kei Hirayama, Miwako Nagasaka, et al.Pageof 2