Publications:

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Hemostatic defects in congenital disorders of glycosylation.

Research And Practice In Thrombosis And Haemostasis

Pascreau, Tiffany T; Auditeau, Claire C; Borgel, Delphine D

Publication Date: 2023-03

Variant appearance in text: PMM2: R141H

PubMed Link: 37193126

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.

Human Genetics

Kiparissi, Fevronia F; Dastamani, Antonia A; Palm, Liina L; Azabdaftari, Aline A; Campos, Luis L; Gaynor, Edward E; Grünewald, Stephanie S; Uhlig, Holm H HH; Kleta, Robert R; Böckenhauer, Detlef D; Jones, Kelsey D J KDJ

Publication Date: 2023-02-11

Variant appearance in text: PMM2: Arg141His

PubMed Link: 36773065

Variant Present in the following documents:

• Main text
• 439_2023_Article_2523.pdf

View BVdb publication page

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Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.

Oxidative Medicine And Cellular Longevity

Yu, Fan F; Lin, Li L; Sun, Jingmiao J; Pan, Jicheng J; Liao, Yixin Y; Pan, Yunfan Y; Bai, Guannan G; Ma, Liangjian L; Mao, Jianhua J; Hu, Lidan L

Publication Date: 2023

Variant appearance in text: PMM2: R141H

PubMed Link: 36743691

Variant Present in the following documents:

• OMCL2023-5964723.pdf

View BVdb publication page

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Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management.

Frontiers In Endocrinology

Chen, Congli C; Sang, Yanmei Y

Publication Date: 2022

Variant appearance in text: PMM2: 422G>A

PubMed Link: 36726472

Variant Present in the following documents:

• Main text
• fendo-13-1102307.pdf

View BVdb publication page

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Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease.

Pediatric Reports

Acharya, Ratna R; Upadhyay, Kiran K

Publication Date: 2022-10-24

Variant appearance in text: PMM2: Arg141His

PubMed Link: 36412659

Variant Present in the following documents:

• Main text
• pediatrrep-14-00052.pdf

View BVdb publication page

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A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.

Italian Journal Of Pediatrics

Lebredonchel, E E; Riquet, A A; Neut, D D; Broly, F F; Matthijs, G G; Klein, A A; Foulquier, F F

Publication Date: 2022-10-11

Variant appearance in text: PMM2: Arg141His

PubMed Link: 36221102

Variant Present in the following documents:

• Main text
• 13052_2022_Article_1355.pdf

View BVdb publication page

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Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)

van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M

Publication Date: 2022-10-31

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 36149256

Variant Present in the following documents:

• deac208_supplementary_table_sii.xlsx, sheet 1

View BVdb publication page

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Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

Ebiomedicine

Heddar, Abdelkader A; Ogur, Cagri C; Da Costa, Sabrina S; Braham, Inès I; Billaud-Rist, Line L; Findikli, Necati N; Beneteau, Claire C; Reynaud, Rachel R; Mahmoud, Khaled K; Legrand, Stéphanie S; Marchand, Maud M; Cedrin-Durnerin, Isabelle I; Cantalloube, Adèle A; Peigne, Maeliss M; Bretault, Marion M; Dagher-Hayeck, Benedicte B; Perol, Sandrine S; Droumaguet, Celine C; Cavkaytar, Sabri S; Nicolas-Bonne, Carole C; Elloumi, Hanen H; Khrouf, Mohamed M; Rougier-LeMasle, Charlotte C; Fradin, Melanie M; Le Boette, Elsa E; Luigi, Perrine P; Guerrot, Anne-Marie AM; Ginglinger, Emmanuelle E; Zampa, Amandine A; Fauconnier, Anais A; Auger, Nathalie N; Paris, Françoise F; Brischoux-Boucher, Elise E; Cabrol, Christelle C; Brun, Aurore A; Guyon, Laura L; Berard, Melanie M; Riviere, Axelle A; Gruchy, Nicolas N; Odent, Sylvie S; Gilbert-Dussardier, Brigitte B; Isidor, Bertrand B; Piard, Juliette J; Lambert, Laetitia L; Hamamah, Samir S; Guedj, Anne Marie AM; Brac de la Perriere, Aude A; Fernandez, Hervé H; Raffin-Sanson, Marie-Laure ML; Polak, Michel M; Letur, Hélène H; Epelboin, Sylvie S; Plu-Bureau, Genevieve G; Wołczyński, Sławomir S; Hieronimus, Sylvie S; Aittomaki, Kristiina K; Catteau-Jonard, Sophie S; Misrahi, Micheline M

Publication Date: 2022-10

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 36099812

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc1.pdf

View BVdb publication page

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Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).

International Journal Of Molecular Sciences

Brasil, Sandra S; Allocca, Mariateresa M; Magrinho, Salvador C M SCM; Santos, Inês I; Raposo, Madalena M; Francisco, Rita R; Pascoal, Carlota C; Martins, Tiago T; Videira, Paula A PA; Pereira, Florbela F; Andreotti, Giuseppina G; Jaeken, Jaak J; Kantautas, Kristin A KA; Perlstein, Ethan O EO; Ferreira, Vanessa Dos Reis VDR

Publication Date: 2022-08-05

Variant appearance in text: PMM2: R141H

PubMed Link: 35955863

Variant Present in the following documents:

• Main text
• ijms-23-08725.pdf

View BVdb publication page

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Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Leukemia

Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Bornhauser, Beat B; Frismantas, Viktoras V; Assenov, Yassen Y; Zimmermann, Martin M; Happich, Margit M; von Knebel-Doeberitz, Caroline C; von Neuhoff, Nils N; Köhler, Rolf R; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Avigad, Smadar S; Pfister, Stefan M SM; Muckenthaler, Martina U MU; Bourquin, Jean-Pierre JP; Korbel, Jan O JO; Kulozik, Andreas E AE

Publication Date: 2022-07

Variant appearance in text: PMM2: 422G>A; R141H

PubMed Link: 35585141

Variant Present in the following documents:

• 41375_2022_1587_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

Journal Of Clinical Research In Pediatric Endocrinology

Vurallı, Doğuş D; Yıldız, Yılmaz Y; Ozon, Alev A; Dursun, Ali A; Gönç, Nazlı N; Tokatlı, Ayşegül A; Sivri, H Serap HS; Alikaşifoğlu, Ayfer A

Publication Date: 2022-08-25

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 35308014

Variant Present in the following documents:

• Main text
• JCRPE-14-275.pdf

View BVdb publication page

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The development of end stage renal disease in two patients with PMM2-CDG.

Jimd Reports

Tiwary, Henna H; Hecht, Leah E LE; Brucker, William J WJ; Berry, Gerard T GT; Rodig, Nancy M NM

Publication Date: 2022-03

Variant appearance in text: PMM2: Arg141His

PubMed Link: 35281664

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Journal Of Inherited Metabolic Disease

Abu Bakar, Nurulamin N; Ashikov, Angel A; Brum, Jaime Moritz JM; Smeets, Roel R; Kersten, Marjan M; Huijben, Karin K; Keng, Wee Teik WT; Speck-Martins, Carlos Eduardo CE; de Carvalho, Daniel Rocha DR; de Rizzo, Isabela Maria Pinto Oliveira IMPO; de Mello, Walquiria Domingues WD; Heiner-Fokkema, Rebecca R; Gorman, Kathleen K; Grunewald, Stephanie S; Michelakakis, Helen H; Moraitou, Marina M; Martinelli, Diego D; van Scherpenzeel, Monique M; Janssen, Mirian M; de Boer, Lonneke L; van den Heuvel, Lambertus P LP; Thiel, Christian C; Lefeber, Dirk J DJ

Publication Date: 2022-07

Variant appearance in text: PMM2: Arg141His

PubMed Link: 35279850

Variant Present in the following documents:

• JIMD-45-769-s001.xlsx, sheet 2
• JIMD-45-769-s001.xlsx, sheet 1

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: PMM2: 422G>A

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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PMM2-CDG and nephrotic syndrome: A case report.

Clinical Case Reports

Banderali, Giuseppe G; Salvatici, Elisabetta E; Rovelli, Valentina V; Jaeken, Jaak J

Publication Date: 2022-02

Variant appearance in text: PMM2: 422G>A; R141H

PubMed Link: 35154715

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Nature Communications

Arnadottir, Gudny A GA; Oddsson, Asmundur A; Jensson, Brynjar O BO; Gisladottir, Svanborg S; Simon, Mariella T MT; Arnthorsson, Asgeir O AO; Katrinardottir, Hildigunnur H; Fridriksdottir, Run R; Ivarsdottir, Erna V EV; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Barrick, Rebekah R; Saemundsdottir, Jona J; le Roux, Louise L; Oskarsson, Gudjon R GR; Asmundsson, Jurate J; Steffensen, Thora T; Gudmundsson, Kjartan R KR; Ludvigsson, Petur P; Jonsson, Jon J JJ; Masson, Gisli G; Jonsdottir, Ingileif I; Holm, Hilma H; Jonasson, Jon G JG; Magnusson, Olafur Th OT; Thorarensen, Olafur O; Abdenur, Jose J; Norddahl, Gudmundur L GL; Gudbjartsson, Daniel F DF; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K

Publication Date: 2022-02-04

Variant appearance in text: PMM2: Arg141His

PubMed Link: 35121750

Variant Present in the following documents:

• 41467_2022_28330_MOESM1_ESM.pdf
• 41467_2022_28330_MOESM4_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: PMM2: R141H; rs28936415

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: PMM2: Arg141His; rs28936415

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: PMM2: Arg141His; rs28936415

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

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GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB.

Molecular Biomedicine

Liu, Zhe Z; Wang, Yan Y; Yang, Fan F; Yang, Qin Q; Mo, Xianming X; Burstein, Ezra E; Jia, Da D; Cai, Xiao-Tang XT; Tu, Yingfeng Y

Publication Date: 2021-05-10

Variant appearance in text: PMM2: R141H

PubMed Link: 35006422

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-Phenotype Correlations in PMM2-CDG.

Genes

Vaes, Laurien L; Rymen, Daisy D; Cassiman, David D; Ligezka, Anna A; Vanhoutvin, Nele N; Quelhas, Dulce D; Morava, Eva E; Witters, Peter P

Publication Date: 2021-10-21

Variant appearance in text: PMM2: Arg141His

PubMed Link: 34828263

Variant Present in the following documents:

• Main text
• genes-12-01658.pdf

View BVdb publication page

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Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.

Jci Insight

Klaver, Elsenoor J EJ; Dukes-Rimsky, Lynn L; Kumar, Brijesh B; Xia, Zhi-Jie ZJ; Dang, Tammie T; Lehrman, Mark A MA; Angel, Peggi P; Drake, Richard R RR; Freeze, Hudson H HH; Steet, Richard R; Flanagan-Steet, Heather H

Publication Date: 2021-11-16

Variant appearance in text: PMM2: Arg141His

PubMed Link: 34784297

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine

Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW

Publication Date: 2021

Variant appearance in text: PMM2: R141H

PubMed Link: 34782856

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomics Integration Into Nephrology Practice.

Kidney Medicine

Pinto E Vairo, Filippo F; Prochnow, Carri C; Kemppainen, Jennifer L JL; Lisi, Emily C EC; Steyermark, Joan M JM; Kruisselbrink, Teresa M TM; Pichurin, Pavel N PN; Dhamija, Rhadika R; Hager, Megan M MM; Albadri, Sam S; Cornell, Lynn D LD; Lazaridis, Konstantinos N KN; Klee, Eric W EW; Senum, Sarah R SR; El Ters, Mireille M; Amer, Hatem H; Baudhuin, Linnea M LM; Moyer, Ann M AM; Keddis, Mira T MT; Zand, Ladan L; Sas, David J DJ; Erickson, Stephen B SB; Fervenza, Fernando C FC; Lieske, John C JC; Harris, Peter C PC; Hogan, Marie C MC

Publication Date: 2021

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 34746741

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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A library of induced pluripotent stem cells from clinically well-characterized, diverse healthy human individuals.

Stem Cell Reports

Schaniel, Christoph C; Dhanan, Priyanka P; Hu, Bin B; Xiong, Yuguang Y; Raghunandan, Teeya T; Gonzalez, David M DM; Dariolli, Rafael R; D'Souza, Sunita L SL; Yadaw, Arjun S AS; Hansen, Jens J; Jayaraman, Gomathi G; Mathew, Bino B; Machado, Moara M; Berger, Seth I SI; Tripodi, Joseph J; Najfeld, Vesna V; Garg, Jalaj J; Miller, Marc M; Surlyn, Colleen S CS; Michelis, Katherine C KC; Tangirala, Neelima C NC; Weerahandi, Himali H; Thomas, David C DC; Beaumont, Kristin G KG; Sebra, Robert R; Mahajan, Milind M; Schadt, Eric E; Vidovic, Dusica D; Schürer, Stephan C SC; Goldfarb, Joseph J; Azeloglu, Evren U EU; Birtwistle, Marc R MR; Sobie, Eric A EA; Kovacic, Jason C JC; Dubois, Nicole C NC; Iyengar, Ravi R

Publication Date: 2021-12-14

Variant appearance in text: PMM2: 422G>A; R141H; rs28936415

PubMed Link: 34739849

Variant Present in the following documents:

• mmc8.xlsx, sheet 1

View BVdb publication page

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Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.

Frontiers In Pediatrics

Serrano, Mercedes M

Publication Date: 2021

Variant appearance in text: PMM2: R141H

PubMed Link: 34708008

Variant Present in the following documents:

• fped-09-717864.pdf

View BVdb publication page

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Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Frontiers In Genetics

Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2021

Variant appearance in text: PMM2: 422G>A; Arg141His; rs28936415

PubMed Link: 34691145

Variant Present in the following documents:

• Main text
• Data_Sheet_2.xlsx, sheet 3

View BVdb publication page

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Anthropometric Phenotype of Patients with PMM2-CDG.

Children (Basel, Switzerland)

Lipiński, Patryk P; Różdżyńska-Świątkowska, Agnieszka A; Bogdańska, Anna A; Tylki-Szymańska, Anna A

Publication Date: 2021-09-26

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 34682117

Variant Present in the following documents:

• Main text
• children-08-00852.pdf

View BVdb publication page

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Treatment Options in Congenital Disorders of Glycosylation.

Frontiers In Genetics

Park, Julien H JH; Marquardt, Thorsten T

Publication Date: 2021

Variant appearance in text: PMM2: R141H

PubMed Link: 34567084

Variant Present in the following documents:

• Main text
• fgene-12-735348.pdf

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: PMM2: R141H

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.

Frontiers In Genetics

Pajusalu, Sander S; Vals, Mari-Anne MA; Mihkla, Laura L; Šamarina, Ustina U; Kahre, Tiina T; Õunap, Katrin K

Publication Date: 2021

Variant appearance in text: PMM2: Arg141His

PubMed Link: 34447415

Variant Present in the following documents:

• Main text
• fgene-12-719437.pdf

View BVdb publication page

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NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International Journal Of Molecular Sciences

Galatolo, Daniele D; De Michele, Giovanna G; Silvestri, Gabriella G; Leuzzi, Vincenzo V; Casali, Carlo C; Musumeci, Olimpia O; Antenora, Antonella A; Astrea, Guja G; Barghigiani, Melissa M; Battini, Roberta R; Battisti, Carla C; Caputi, Caterina C; Cioffi, Ettore E; De Michele, Giuseppe G; Dotti, Maria Teresa MT; Fico, Tommasina T; Fiorillo, Chiara C; Galosi, Serena S; Lieto, Maria M; Malandrini, Alessandro A; Melone, Marina A B MAB; Mignarri, Andrea A; Natale, Gemma G; Pegoraro, Elena E; Petrucci, Antonio A; Ricca, Ivana I; Riso, Vittorio V; Rossi, Salvatore S; Rubegni, Anna A; Scarlatti, Arianna A; Tinelli, Francesca F; Trovato, Rosanna R; Tedeschi, Gioacchino G; Tessa, Alessandra A; Filla, Alessandro A; Santorelli, Filippo Maria FM

Publication Date: 2021-08-06

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 34445196

Variant Present in the following documents:

• Main text
• ijms-22-08490.pdf

View BVdb publication page

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Fructose and Mannose in Inborn Errors of Metabolism and Cancer.

Metabolites

Lieu, Elizabeth L EL; Kelekar, Neil N; Bhalla, Pratibha P; Kim, Jiyeon J

Publication Date: 2021-07-25

Variant appearance in text: PMM2: R141H

PubMed Link: 34436420

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.

Molecular Genetics And Metabolism Reports

González-Domínguez, C A CA; Villarroel, C E CE; Rodríguez-Morales, M M; Manrique-Hernández, S S; González-Jaimes, A A; Olvera-Rodriguez, F F; Beutelspacher, K K; Molina-Garay, C C; Carrillo-Sánchez, K K; Flores-Lagunes, L L LL; Jiménez-Olivares, M M; Muñoz-Rivas, A A; Cruz-Muñoz, M E ME; Mora-Montes, H M HM; Salinas-Marín, R R; Alaez-Verson, C C; Martínez-Duncker, I I

Publication Date: 2021-09

Variant appearance in text: PMM2: 422G>A; R141H

PubMed Link: 34277356

Variant Present in the following documents:

• Main text
• main.pdf

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: PMM2: R141H

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

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Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination - A Case Report.

Biomedicine Hub

Prasher, Priya P; Redmond, Katherine K; Stone, Hillarey H; Bailes, James J; Nehus, Edward E; Preston, Deborah D; Werthammer, Joseph J; Werthhammer,

Publication Date: 2020

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 34055813

Variant Present in the following documents:

• Main text

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Recurrent fetal truncus arteriosus associated with PMM2-CDG.

Jimd Reports

Malheiro, Filipa F; Silva, Manuela M; Macedo, Carlos C; Ramalho, Carla C

Publication Date: 2021-05

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 33977037

Variant Present in the following documents:

• Main text

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D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

Orphanet Journal Of Rare Diseases

Witters, Peter P; Andersson, Hans H; Jaeken, Jaak J; Tseng, Laura L; van Karnebeek, Clara D M CDM; Lefeber, Dirk J DJ; Cassiman, David D; Morava, Eva E

Publication Date: 2021-03-20

Variant appearance in text: PMM2: R141H

PubMed Link: 33743737

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1609.pdf

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: PMM2: 422G>A; Arg141His

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

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Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.

Orphanet Journal Of Rare Diseases

Witters, Peter P; Edmondson, Andrew C AC; Lam, Christina C; Johnsen, Christin C; Patterson, Marc C MC; Raymond, Kimiyo M KM; He, Miao M; Freeze, Hudson H HH; Morava, Eva E

Publication Date: 2021-02-25

Variant appearance in text: PMM2: R141H

PubMed Link: 33632285

Variant Present in the following documents:

• 13023_2021_Article_1751.pdf

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Rescuing lethal phenotypes induced by disruption of genes in mice: a review of novel strategies.

Physiological Research

Lipták, N N; Gál, Z Z; Biró, B B; Hiripi, L L; Hoffmann, O I OI

Publication Date: 2021-03-17

Variant appearance in text: PMM2: R141H

PubMed Link: 33453719

Variant Present in the following documents:

• Main text

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Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Orphanet Journal Of Rare Diseases

Starosta, Rodrigo Tzovenos RT; Boyer, Suzanne S; Tahata, Shawn S; Raymond, Kimiyo K; Lee, Hee Eun HE; Wolfe, Lynne A LA; Lam, Christina C; Edmondson, Andrew C AC; Schwartz, Ida Vanessa Doederlein IVD; Morava, Eva E

Publication Date: 2021-01-07

Variant appearance in text: PMM2: Arg141His

PubMed Link: 33413482

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1630.pdf

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Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.

Jimd Reports

Qian, Zhen Z; Van den Eynde, Jef J; Heymans, Stephane S; Mertens, Luc L; Morava, Eva E

Publication Date: 2020-11

Variant appearance in text: PMM2: R141H

PubMed Link: 33204593

Variant Present in the following documents:

• Main text
• JMD2-56-27.pdf

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