دورية أكاديمية
Genomic sequencing: ending the diagnostic odyssey for a child with microcephaly and dystonia with a perioperative challenge.
| العنوان: | Genomic sequencing: ending the diagnostic odyssey for a child with microcephaly and dystonia with a perioperative challenge. |
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| المؤلفون: | Cheng DT; Respiratory Medicine Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore., Yeo TH; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore.; Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Seng MS; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore.; Haematology/Oncology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore., Teoh OH; Respiratory Medicine Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore., Lee S; Paediatric Anaesthesia Service, KK Women's and Children's Hospital, Singapore., Koh AL; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore.; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore. |
| المصدر: | Singapore medical journal [Singapore Med J] 2024 Jun 28. Date of Electronic Publication: 2024 Jun 28. |
| Publication Model: | Ahead of Print |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wolters Kluwer - Medknow Country of Publication: India NLM ID: 0404516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2737-5935 (Electronic) Linking ISSN: 00375675 NLM ISO Abbreviation: Singapore Med J Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: July 2022- : [Mumbai] : Wolters Kluwer - Medknow Original Publication: Singapore, Singapore Medical Assn. |
| References: | Iolascon A, Bianchi P, Andolfo I, Russo R, Barcellini W, Fermo E, et al. Recommendations for diagnosis and treatment of methemoglobinemia. Am J Hematol 2021;96:1666–78. Gupta V, Kulkarni A, Warang P, Devendra R, Chiddarwar A, Kedar P. Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia. Human Mutation 2020;41:737–48. Nicita F, Sabatini L, Alesi V, Lucignani G, Sallicandro E, Sferra A, et al. Neurological and neuroimaging features of CYB5R3-related recessive hereditary methemoglobinemia type II. Brain Sci 2022;12:182. Golden PJ, Weinstein R. Treatment of high-risk, refractory acquired methemoglobinemia with automated red blood cell exchange. J Clin Apher 1998;13:28–31. Ri H, Park Y, Jeon Y. Anesthetic experience: Congenital methemoglobinemia due to hemoglobin M. J Dent Anesth Pain Med 2021;21:471–4. |
| تواريخ الأحداث: | Date Created: 20240701 Latest Revision: 20240701 |
| رمز التحديث: | 20240701 |
| DOI: | 10.4103/singaporemedj.SMJ-2023-134 |
| PMID: | 38949060 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 2737-5935 |
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| DOI: | 10.4103/singaporemedj.SMJ-2023-134 |