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Ophthalmic Genetics Volume 35, 2014 - Issue 2
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Case Reports

Leber’s Congenital Amaurosis as the Retinal Degenerative Phenotype in Thiamine Responsive Megaloblastic Anemia: A Case Report

Natarajan N. SrikrupaSNONGC Department of Genetics and Molecular Biology, Vision Research Foundation Chennai, Tamil NaduIndia
,
Swaminathan MeenakshiDepartment of Pediatric Ophthalmology, Medical Research Foundation Chennai, Tamil NaduIndia
,
Tharigopala ArokiasamySNONGC Department of Genetics and Molecular Biology, Vision Research Foundation Chennai, Tamil NaduIndia
,
Kaushik MuraliDepartment of Pediatric Ophthalmology, Medical Research Foundation Chennai, Tamil NaduIndia
&
Nagasamy SoumittraSNONGC Department of Genetics and Molecular Biology, Vision Research Foundation Chennai, Tamil NaduIndiaCorrespondence[email protected]/[email protected]
Pages 119-124 | Received 19 Dec 2012, Accepted 02 Apr 2013, Published online: 02 May 2013

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Juan Darío Ortigoza-Escobar, Marta Molero-Luis, Angela Arias, Laura Martí-Sánchez, Pilar Rodriguez-Pombo, Rafael Artuch & Belén Pérez-Dueñas. (2016) Treatment of genetic defects of thiamine transport and metabolism. Expert Review of Neurotherapeutics 16:7, pages 755-763.
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Articles from other publishers (9)

Shijing Wu, Zhisheng Yuan, Zixi Sun, Fengxia Yao & Ruifang Sui. (2021) Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome. American Journal of Medical Genetics Part A 188:3, pages 948-952.
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Genevieve Medina, Julia Perry, Andrea Oza & Margaret Kenna. (2021) Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome. Molecular Case Studies 7:4, pages a006088.
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Katharina Warncke, Nicole Prinz, Violeta Iotova, Desiree Dunstheimer, Nicolin Datz, Beate Karges, Mallikarjun V. Jali, Dorothea Linsenmeyer, Birthe Susanne Olsen, Monika Seiwald, Priya Prahalad, Gideon de Sousa & Danièle Pacaud. (2021) Thiamine-Responsive Megaloblastic Anemia-Related Diabetes: Long-Term Clinical Outcomes in 23 Pediatric Patients From the DPV and SWEET Registries. Canadian Journal of Diabetes 45:6, pages 539-545.
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Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta & Sinnakaruppan Mathavan. (2021) Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis. Human Genome Variation 8:1.
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Xin Li, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang & Xiumin Wang. (2019) TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report. BMC Pediatrics 19:1.
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Chengjun Sun, Zhou Pei, Miaoying Zhang, Bijun Sun, Lin Yang, Zhuhui Zhao, Ruoqian Cheng & Feihong Luo. (2017) Recovered insulin production after thiamine administration in permanent neonatal diabetes mellitus with a novel solute carrier family 19 member 2 ( SLC19A2 ) mutation . Journal of Diabetes 10:1, pages 50-58.
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Santhosh Sathyanarayana olety & Deepesh Vellakampadi. (2016) TRMA syndrome (thiamine-responsive megaloblastic anaemia): An example of rare monogenic diabetes: is thiamine a magic pill for anaemia and diabetes?. International Journal of Diabetes in Developing Countries 36:4, pages 389-392.
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Juan Darío Ortigoza Escobar & Belén Pérez Dueñas. (2016) Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency. Seminars in Pediatric Neurology 23:4, pages 341-350.
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Paramasivam Manimaran, Veedamali S. Subramanian, Sellamuthu Karthi, Krishnan Gandhimathi, Perumal Varalakshmi, Ramasamy Ganesh, Andiappan Rathinavel, Hamid M. Said & Balasubramaniem Ashokkumar. (2016) Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient. Clinica Chimica Acta 452, pages 44-49.
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