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Yuichi Mushimoto

Explore the profile of Yuichi Mushimoto including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 33
Citations 193
Followers 0
Related Specialties
Endocrinology
Pediatrics
Chemistry
Top 10 Co-Authors
Hironori Kobayashi
Seiji Yamaguchi
Yuki Hasegawa
Seiji Fukuda
Jamiyan Purevsuren
Takeshi Taketani
Hong Li
Shouichi Ohga
Yasunari Sakai
Kenji Yamada
Published In
Mol Genet Metab
J Chromatogr B Analyt Technol Biomed Life Sci
Clin Pediatr Endocrinol
Mol Genet Metab Rep
Pediatr Int
Affiliations
Soon will be listed here.
Recent Articles
1.
A Case of Cardiogenic Shock due to Propionic Acidemia-Associated Cardiomyopathy Successfully Treated with a Combination of Mechanical Circulatory Support and Medical Therapy
Ishikawa Y, Fujino T, Hashimoto T, Shinohara K, Matsushima S, Fuke Y, et al.
Int Heart J . 2024 Dec; 65(6):1172-1176. PMID: 39617506
An 18-year-old man experienced refractory cardiogenic shock due to dilated cardiomyopathy of unknown aetiology, and was referred to our hospital to undergo a paracorporeal left ventricular assist device (LVAD) implantation....
2.
The immunoreactive signature of monocyte-derived dendritic cells from patients with Down syndrome
Nakashima K, Imai T, Shiraishi A, Unose R, Goto H, Nagatomo Y, et al.
Clin Exp Immunol . 2024 Jun; 217(3):291-299. PMID: 38916251
The clinical spectrum of Down syndrome (DS) ranges from congenital malformations to premature aging and early-onset senescence. Excessive immunoreactivity and oxidative stress are thought to accelerate the pace of aging...
3.
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review
Higashi K, Sonoda Y, Kaku N, Fujii F, Yamashita F, Lee S, et al.
Mol Genet Genomic Med . 2024 Mar; 12(4):e2427. PMID: 38553911
Gaucher disease (GD) is a lysosomal storage disorder caused by a deficiency in the GBA1-encoded enzyme, β-glucocerebrosidase. Enzyme replacement therapy is ineffective for neuronopathic Gaucher disease (nGD). High-dose ambroxol has...
4.
High-Titer Anti-ZSCAN1 Antibodies in a Toddler Clinically Diagnosed with Apparent Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Syndrome
Tocan V, Nakamura-Utsunomiya A, Sonoda Y, Matsuoka W, Mizuguchi S, Muto Y, et al.
Int J Mol Sci . 2024 Mar; 25(5). PMID: 38474067
Severe obesity in young children prompts for a differential diagnosis that includes syndromic conditions. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) syndrome is a potentially fatal disorder...
5.
Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects
Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, Abe K, Muroya K, Yamamoto Y, et al.
J Clin Endocrinol Metab . 2024 Feb; 109(9):2358-2365. PMID: 38373250
Context: Thyroglobulin (Tg), encoded by TG, is essential for thyroid hormone synthesis. TG defects result in congenital hypothyroidism (CH). Most reported patients were born before the introduction of newborn screening...
6.
Critical diseases in neonates after discharge home from birth hospital: A retrospective study from a tertiary hospital in Japan
Fujiyoshi J, Inoue H, Sawano T, Mushimoto Y, Motomura Y, Nishiyama K, et al.
Early Hum Dev . 2023 Sep; 186:105869. PMID: 37774632
Introduction: To establish actionable neonatal screening during the first month of life, we investigated critical diseases in seemingly healthy newborns discharged from birth hospitals. Methods: This retrospective study enrolled previously...
7.
Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)
Nagasaki K, Minamitani K, Nakamura A, Kobayashi H, Numakura C, Itoh M, et al.
Clin Pediatr Endocrinol . 2023 Feb; 32(1):26-51. PMID: 36761493
Purpose of developing the guidelines: Newborn screening (NBS) for congenital hypothyroidism (CH) was started in 1979 in Japan, and early diagnosis and treatment improved the intelligence prognosis of CH patients....
8.
Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in , a common Japanese variant, causes a mortal phenotype
Yamada K, Osawa Y, Kobayashi H, Bo R, Mushimoto Y, Hasegawa Y, et al.
Mol Genet Metab Rep . 2022 Nov; 33:100940. PMID: 36406819
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disease caused by a defect in electron transfer flavoprotein alpha (ETFA), ETF beta (ETFB), or ETF dehydrogenase (ETFDH), and riboflavin metabolism...
9.
The earliest enzyme replacement for infantile-onset Pompe disease in Japan
Tocan V, Mushimoto Y, Kojima-Ishii K, Matsuda A, Toda N, Toyomura D, et al.
Pediatr Int . 2022 Sep; 64(1):e15286. PMID: 36074069
Background: Infantile-onset Pompe disease (IOPD) is the most severe phenotype of a lysosomal storage disorder caused by acid alpha-glucosidase (GAA) deficiency. An enzymatic newborn screening (NBS) program started regionally in...
10.
Anesthesia management in living-donor liver transplantation in a patient with carbamoyl phosphate synthetase deficiency: a case report
Matsushita H, Fujiyoshi T, Yoshimaru K, Matsuura T, Mushimoto Y, Karashima Y, et al.
JA Clin Rep . 2022 Sep; 8(1):71. PMID: 36070152
Background: Carbamoyl phosphate synthetase deficiency (CPS1D) is a urea-cycle disorder (UCD). We report successful perioperative management of pediatric living donor liver transplantation (LDLT) in a CPS1D patient. Case Presentation: A...