Publications:

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Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.

Cell Reports. Medicine

Wiedemann, Arnaud A; Oussalah, Abderrahim A; Lamireau, Nathalie N; Théron, Maurane M; Julien, Melissa M; Mergnac, Jean-Philippe JP; Augay, Baptiste B; Deniaud, Pauline P; Alix, Tom T; Frayssinoux, Marine M; Feillet, François F; Guéant, Jean-Louis JL

Publication Date: 2022-07-19

Variant appearance in text: cblA: 593_596delCTGA

PubMed Link: 35764087

Variant Present in the following documents:

• mmc1.pdf
• mmc4.pdf

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Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia.

Journal Of Inherited Metabolic Disease

Marelli, Cecilia C; Fouilhoux, Alain A; Benoist, Jean-Francois JF; De Lonlay, Pascale P; Guffon-Fouilhoux, Nathalie N; Brassier, Anais A; Cano, Aline A; Chabrol, Brigitte B; Pennisi, Alessandra A; Schiff, Manuel M; Acquaviva, Cecile C; Murphy, Elaine E; Servais, Aude A; Lachmann, Robin R

Publication Date: 2022-09

Variant appearance in text: cblA: 593_596delCTGA

PubMed Link: 35618652

Variant Present in the following documents:

• Main text
• JIMD-45-937.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: MMAA: 593_596delCTGA

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: MMAA: 590_593del

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Manoli, Irini I; Pass, Alexandra R AR; Harrington, Elizabeth A EA; Sloan, Jennifer L JL; Gagné, Jack J; McCoy, Samantha S; Bell, Sarah L SL; Hattenbach, Jacob D JD; Leitner, Brooks P BP; Duckworth, Courtney J CJ; Fletcher, Laura A LA; Cassimatis, Thomas M TM; Galarreta, Carolina I CI; Thurm, Audrey A; Snow, Joseph J; Van Ryzin, Carol C; Ferry, Susan S; Mew, Nicholas Ah NA; Shchelochkov, Oleg A OA; Chen, Kong Y KY; Venditti, Charles P CP

Publication Date: 2021-08

Variant appearance in text: MMAA: 592_595delACTG

PubMed Link: 33820958

Variant Present in the following documents:

• 41436_2021_1143_MOESM1_ESM.pdf

View BVdb publication page

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Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations.

Molecular Genetics And Metabolism Reports

Wesół-Kucharska, Dorota D; Kaczor, Magdalena M; Pajdowska, Magdalena M; Ehmke Vel Emczyńska-Seliga, Ewa E; Bogdańska, Anna A; Kozłowski, Dariusz D; Piekutowska-Abramczuk, Dorota D; Ciara, Elżbieta E; Rokicki, Dariusz D

Publication Date: 2020-03

Variant appearance in text: MMAA: 590_593delTGAC

PubMed Link: 31921599

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: MMAA: 593_596delCTGA; Thr198fs

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Jimd Reports

Scalais, Emmanuel E; Osterheld, Elise E; Geron, Christine C; Pierron, Charlotte C; Chafai, Ronit R; Schlesser, Vincent V; Borde, Patricia P; Regal, Luc L; Laeremans, Hilde H; van Gassen, Koen L I KLI; van den Heuvel, L Bert LB; De Meirleir, Linda L

Publication Date: 2019-09

Variant appearance in text: MMAA: 593_596del

PubMed Link: 31497484

Variant Present in the following documents:

• Main text
• JMD2-49-70.pdf

View BVdb publication page

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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Orphanet Journal Of Rare Diseases

Brasil, Sandra S; Leal, Fátima F; Vega, Ana A; Navarrete, Rosa R; Ecay, María Jesús MJ; Desviat, Lourdes R LR; Riera, Casandra C; Padilla, Natàlia N; de la Cruz, Xavier X; Couce, Mari Luz ML; Martin-Hernández, Elena E; Morais, Ana A; Pedrón, Consuelo C; Peña-Quintana, Luis L; Rigoldi, Miriam M; Specola, Norma N; de Almeida, Isabel Tavares IT; Vives, Inmaculada I; Yahyaoui, Raquel R; Rodríguez-Pombo, Pilar P; Ugarte, Magdalena M; Pérez-Cerda, Celia C; Merinero, Begoña B; Pérez, Belén B

Publication Date: 2018-07-24

Variant appearance in text: MMAA: 593_596delCTGA

PubMed Link: 30041674

Variant Present in the following documents:

• Main text
• 13023_2018_Article_862.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MMAA: 593_596delCTGA; Thr198Serfs

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Manoli, Irini I; Myles, Jennifer G JG; Sloan, Jennifer L JL; Shchelochkov, Oleg A OA; Venditti, Charles P CP

Publication Date: 2016-04

Variant appearance in text: cblA: 592_595delACTG

PubMed Link: 26270765

Variant Present in the following documents:

View BVdb publication page

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