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Ophthalmic Genetics Volume 37, 2016 - Issue 4

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Research Reports

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia

Cristy A. KuCasey Eye Institute, Oregon Health & Science University, Portland, Oregon, USAView further author information

Jacqueline K. NgCasey Eye Institute, Oregon Health & Science University, Portland, Oregon, USAView further author information

Daniel J. KarrCasey Eye Institute, Oregon Health & Science University, Portland, Oregon, USAView further author information

Leah ReznickCasey Eye Institute, Oregon Health & Science University, Portland, Oregon, USAView further author information

Cary O. HardingMolecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USAView further author information

Richard G. WeleberCasey Eye Institute, Oregon Health & Science University, Portland, Oregon, USAView further author information

Mark E. PennesiCasey Eye Institute, Oregon Health & Science University, Portland, Oregon, USACorrespondence[email protected]
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Pages 404-414 | Received 13 Jun 2015, Accepted 14 Nov 2015, Published online: 15 Mar 2016

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https://doi.org/10.3109/13816810.2015.1121500
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Karim Matmat, Jean-Baptiste Conart, Paul-Henri Graindorge, Sandra El Kouche, Ziad Hassan, Youssef Siblini, Rémy Umoret, Ramia Safar, Okan Baspinar, Aurélie Robert, Jean-Marc Alberto, Abderrahim Oussalah, David Coelho, Jean-Louis Guéant & Rosa-Maria Guéant-Rodriguez. (2023) A transgenic mice model of retinopathy of cblG-type inherited disorder of one-carbon metabolism highlights epigenome-wide alterations related to cone photoreceptor cells development and retinal metabolism. Clinical Epigenetics 15:1.
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Arnaud Wiedemann, Abderrahim Oussalah, Nathalie Lamireau, Maurane Théron, Melissa Julien, Jean-Philippe Mergnac, Baptiste Augay, Pauline Deniaud, Tom Alix, Marine Frayssinoux, François Feillet & Jean-Louis Guéant. (2022) Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis. Cell Reports Medicine 3:7, pages 100670.
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Karim Matmat, Rosa-Maria Guéant-Rodriguez, Abderrahim Oussalah, Arnaud Wiedemann-Fodé, Carlo Dionisi-Vici, David Coelho, Jean-Louis Guéant & Jean-Baptiste Conart. (2021) Ocular manifestations in patients with inborn errors of intracellular cobalamin metabolism: a systematic review. Human Genetics 141:7, pages 1239-1251.
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Cecilia Marelli, Alain Fouilhoux, Jean‐Francois Benoist, Pascale De Lonlay, Nathalie Guffon‐Fouilhoux, Anais Brassier, Aline Cano, Brigitte Chabrol, Alessandra Pennisi, Manuel Schiff, Cecile Acquaviva, Elaine Murphy, Aude Servais & Robin Lachmann. (2022) Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia . Journal of Inherited Metabolic Disease.
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Eva Kiessling, Sarah Nötzli, Vyara Todorova, Merima Forny, Matthias R. Baumgartner, Marijana Samardzija, Jakub Krijt, Viktor Kožich, Christian Grimm & D. Sean Froese. (2021) Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1867:10, pages 166201.
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Xujun Chu, Lingchao Meng, Wei Zhang, Jinjun Luo, Zhaoxia Wang & Yun Yuan. (2020) Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?. Frontiers in Neurology 11.
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Emmanuel Scalais, Elise Osterheld, Christine Geron, Charlotte Pierron, Ronit Chafai, Vincent Schlesser, Patricia Borde, Luc Regal, Hilde Laeremans, Koen L. I. Gassen, L. Bert Heuvel & Linda De Meirleir. (2019) Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses. JIMD Reports 49:1, pages 70-79.
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Martina Huemer & Matthias R. Baumgartner. (2019) The clinical presentation of cobalamin‐related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways. Journal of Inherited Metabolic Disease 42:4, pages 686-705.
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Marco Spinazzi. 2019. Handbook of Nutrition, Diet, and the Eye. Handbook of Nutrition, Diet, and the Eye 441 460 .

Wesley Chan, Mohammadali Almasieh, Maria-Magdalena Catrinescu & Leonard A. Levin. (2018) Cobalamin-Associated Superoxide Scavenging in Neuronal Cells Is a Potential Mechanism for Vitamin B12–Deprivation Optic Neuropathy. The American Journal of Pathology 188:1, pages 160-172.
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Giacomo M. Bacci, Maria A. Donati, Elisabetta Pasquini, Francis Munier, Catia Cavicchi, Amelia Morrone, Andrea Sodi, Vittoria Murro, Nuria Garcia Segarra, Claudio Defilippi, Leonardo Bussolin & Roberto Caputo. (2017) Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients. Acta Ophthalmologica 95:8, pages e776-e782.
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Mohammed Almannai, Ronit Marom, Kristian Divin, Fernando Scaglia, V. Reid Sutton, William J. Craigen, Brendan Lee, Lindsay C. Burrage & Brett H. Graham. (2017) Milder clinical and biochemical phenotypes associated with the c.482G > A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Molecular Genetics and Metabolism 122:1-2, pages 60-66.
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Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia

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Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia

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