chronic progressive acrocyanosis - PMC

Ari Horton, Kai Mun Hong, Dinusha Pandithan, Meredith Allen, Caroline Killick, Stacy Goergen, Amanda Springer, Dean Phelan, Melanie Marty, Rebecca Halligan, Joy Lee, James Pitt, Belinda Chong, John Christodoulou, Sebastian Lunke, Zornitza Stark, Michael Fahey

Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006193. doi: 10.1101/mcs.a006193

PMCID:: PMC8958906

Abstract Article PDF–4.1M

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Hypereosinophilic Syndrome Following the BNT162b2 (BioNTech/Pfizer) Vaccine Successfully Treated with Mepolizumab: A Case Report and Review of the Literature

Ariela Hoxha, Tania Tomaselli, Giacomo Maria Minicucci, Jacopo Dall’Acqua, Davide Zardo, Paolo Simioni, Luigi Naldi

J Clin Med. 2023 Mar; 12(6): 2376. Published online 2023 Mar 19. doi: 10.3390/jcm12062376

PMCID:: PMC10051530

Abstract Article PDF–4.6M

Select item 94299736.

Abstract Book for the 27^th Congress of the European Hematology Association

Hemasphere. 2022 Jun; 6(Suppl ): 1-4130. Published online 2022 Jun 23. doi: 10.1097/01.HS9.0000852292.38263.b8

PMCID:: PMC9429973

Article PDF–184M

Select item 74760587.

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation

Melike Ersoy, Valeria Tiranti, Massimo Zeviani

Mol Genet Metab Rep. 2020 Dec; 25: 100641. Published online 2020 Aug 28. doi: 10.1016/j.ymgmr.2020.100641

PMCID:: PMC7476058

Abstract Article PDF–707K

Select item 86162658.

Autoimmune Hemolytic Anemia in Chronic Lymphocytic Leukemia: A Comprehensive Review

Francesco Autore, Raffaella Pasquale, Idanna Innocenti, Alberto Fresa, Federica Sora’, Luca Laurenti

Cancers (Basel) 2021 Nov; 13(22): 5804. Published online 2021 Nov 19. doi: 10.3390/cancers13225804

PMCID:: PMC8616265

Abstract Article PDF–329K

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Case Series of Ethylmalonic Encephalopathy from Southern India

Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Kapil Jetha, Kiruthiga Sugumar, Meenakshi Bhat, Sanjay K. Shivappa, Maya Bhat, Rita Christopher

J Pediatr Genet. 2023 Sep; 12(3): 213–218. Published online 2021 Dec 6. doi: 10.1055/s-0041-1740370

PMCID:: PMC10421674

Abstract Article PDF–532K

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Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Diagnosis and Management in Young People: A Primer

Peter C. Rowe, Rosemary A. Underhill, Kenneth J. Friedman, Alan Gurwitt, Marvin S. Medow, Malcolm S. Schwartz, Nigel Speight, Julian M. Stewart, Rosamund Vallings, Katherine S. Rowe

Front Pediatr. 2017; 5: 121. Published online 2017 Jun 19. doi: 10.3389/fped.2017.00121

PMCID:: PMC5474682

Abstract Article PDF–694K

Select item 256323311.

ETHE1 mutations are specific to ethylmalonic encephalopathy

V Tiranti, E Briem, E Lamantea, R Mineri, E Papaleo, L De Gioia, F Forlani, P Rinaldo, P Dickson, B Abu‐Libdeh, L Cindro‐Heberle, M Owaidha, R M Jack, E Christensen, A Burlina, M Zeviani

J Med Genet. 2006 Apr; 43(4): 340–346. Published online 2005 Sep 23. doi: 10.1136/jmg.2005.036210

PMCID:: PMC2563233

Abstract Article PDF–688K

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Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

Baozhong Xin, Stephen Jones, Erik G. Puffenberger, Claas Hinze, Alicia Bright, Haiyan Tan, Aimin Zhou, Guiyun Wu, Jilda Vargus-Adams, Dimitris Agamanolis, Heng Wang

Proc Natl Acad Sci U S A. 2011 Mar 29; 108(13): 5372–5377. Published online 2011 Mar 14. doi: 10.1073/pnas.1014265108

PMCID:: PMC3069167

Abstract Article PDF–809K

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Nakajo-Nishimura Syndrome: The First African Case

Nacif Eddine Ghodbane, Ali Mecibah, Zohra Merzougui, Halima Zerguine, Zineb Akakba, Samy Slimani

Mediterr J Rheumatol. 2023 Jun; 34(2): 262–265. Published online 2023 Jun 30. doi: 10.31138/mjr.34.2.262

PMCID:: PMC10466351

Abstract Article PDF–219K

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Two Cases of Severe Hypertension in JAK2 Mutation-Positive Myeloproliferative Neoplasms

Raunak Rao, Spoorthy Kulkarni, Ian B. Wilkinson

Case Rep Vasc Med. 2020; 2020: 8887423. Published online 2020 Nov 9. doi: 10.1155/2020/8887423

PMCID:: PMC7811567

Abstract Article PDF–881K

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Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy

Allison Tam, Noura Salem AlDhaheri, Krupa Mysore, Mary Elizabeth Tessier, John Goss, Luis A. Fernandez, Anthony M. D'Alessandro, Jessica Scott Schwoerer, Gregory M. Rice, Sarah H. Elsea, Fernando Scaglia

Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 24.

Published in final edited form as: Am J Med Genet A. 2019 Jun; 179(6): 1015–1019. Published online 2019 Mar 12. doi: 10.1002/ajmg.a.61104