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Hemolytic anemia due to a disorder of glycolytic enzymes

MedGen UID:
1843086
Concept ID:
C5681713
Disease or Syndrome
Orphanet: ORPHA98372

Professional guidelines

PubMed

Schroeder P, Fulzele K, Forsyth S, Ribadeneira MD, Guichard S, Wilker E, Marshall CG, Drake A, Fessler R, Konstantinidis DG, Seu KG, Kalfa TA
J Pharmacol Exp Ther 2022 Mar;380(3):210-219. Epub 2022 Jan 14 doi: 10.1124/jpet.121.000743. PMID: 35031585
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739

Recent clinical studies

Etiology

Mahmood A, Yaku K, Hikosaka K, Gulshan M, Inoue SI, Kobayashi F, Nakagawa T
Biochem Biophys Res Commun 2022 Dec 31;637:58-65. Epub 2022 Nov 5 doi: 10.1016/j.bbrc.2022.11.003. PMID: 36375251
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173
Roland BP, Zeccola AM, Larsen SB, Amrich CG, Talsma AD, Stuchul KA, Heroux A, Levitan ES, VanDemark AP, Palladino MJ
PLoS Genet 2016 Mar;12(3):e1005941. Epub 2016 Mar 31 doi: 10.1371/journal.pgen.1005941. PMID: 27031109Free PMC Article
Aasly J, van Diggelen OP, Boer AM, Brønstad G
Eur J Neurol 2000 Jan;7(1):111-3. doi: 10.1046/j.1468-1331.2000.00012.x. PMID: 10809925
De Furia FG, Miller DR, Cerami A, Manning JM
J Clin Invest 1972 Mar;51(3):566-74. doi: 10.1172/JCI106845. PMID: 5011101Free PMC Article

Diagnosis

Wills J, Horenstein M, Kim A, Silva MA, Dima L
Am J Ther 2023 Sep-Oct 01;30(5):e433-e438. doi: 10.1097/MJT.0000000000001663. PMID: 37713687
Bianchi P, Fermo E
Haematologica 2020 Sep 1;105(9):2218-2228. doi: 10.3324/haematol.2019.241141. [Epub ahead of print] PMID: 33054047Free PMC Article
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Grace RF, Mark Layton D, Barcellini W
Br J Haematol 2019 Mar;184(5):721-734. Epub 2019 Jan 25 doi: 10.1111/bjh.15758. PMID: 30681718
Grace RF, Glader B
Pediatr Clin North Am 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. PMID: 29803284

Therapy

Xu JZ, Vercellotti GM
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):107-113. doi: 10.1182/hematology.2023000467. PMID: 38066891Free PMC Article
Wills J, Horenstein M, Kim A, Silva MA, Dima L
Am J Ther 2023 Sep-Oct 01;30(5):e433-e438. doi: 10.1097/MJT.0000000000001663. PMID: 37713687
Schroeder P, Fulzele K, Forsyth S, Ribadeneira MD, Guichard S, Wilker E, Marshall CG, Drake A, Fessler R, Konstantinidis DG, Seu KG, Kalfa TA
J Pharmacol Exp Ther 2022 Mar;380(3):210-219. Epub 2022 Jan 14 doi: 10.1124/jpet.121.000743. PMID: 35031585
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Grace RF, Glader B
Pediatr Clin North Am 2018 Jun;65(3):579-595. doi: 10.1016/j.pcl.2018.02.005. PMID: 29803284

Prognosis

Dongerdiye R, Jagadeesh S, Suresh B, Rajendran A, Devendra R, Warang P, Kedar PS
J Clin Pathol 2021 Oct;74(10):620-624. Epub 2020 Dec 25 doi: 10.1136/jclinpath-2020-206960. PMID: 33361148
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173
Oliver C, Timson DJ
Eur J Med Genet 2017 Jun;60(6):289-298. Epub 2017 Mar 21 doi: 10.1016/j.ejmg.2017.03.008. PMID: 28341520
Orosz F, Vértessy BG, Hollán S, Horányi M, Ovádi J
J Theor Biol 1996 Oct 7;182(3):437-47. doi: 10.1006/jtbi.1996.0184. PMID: 8944178
Lakomek M, Winkler H, Pekrun A, Krüger N, Sander M, Huppke P, Schröter W
Enzyme Protein 1994-1995;48(3):149-63. PMID: 8589802

Clinical prediction guides

Dongerdiye R, Jagadeesh S, Suresh B, Rajendran A, Devendra R, Warang P, Kedar PS
J Clin Pathol 2021 Oct;74(10):620-624. Epub 2020 Dec 25 doi: 10.1136/jclinpath-2020-206960. PMID: 33361148
Segal J, Mülleder M, Krüger A, Adler T, Scholze-Wittler M, Becker L, Calzada-Wack J, Garrett L, Hölter SM, Rathkolb B, Rozman J, Racz I, Fischer R, Busch DH, Neff F, Klingenspor M, Klopstock T, Grüning NM, Michel S, Lukaszewska-McGreal B, Voigt I, Hartmann L, Timmermann B, Lehrach H, Wolf E, Wurst W, Gailus-Durner V, Fuchs H, H de Angelis M, Schrewe H, Yuneva M, Ralser M
J Inherit Metab Dis 2019 Sep;42(5):839-849. Epub 2019 Jun 11 doi: 10.1002/jimd.12105. PMID: 31111503Free PMC Article
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W
Blood 2018 May 17;131(20):2183-2192. Epub 2018 Mar 16 doi: 10.1182/blood-2017-10-810796. PMID: 29549173
Oliver C, Timson DJ
Eur J Med Genet 2017 Jun;60(6):289-298. Epub 2017 Mar 21 doi: 10.1016/j.ejmg.2017.03.008. PMID: 28341520
Orosz F, Oláh J, Ovádi J
IUBMB Life 2006 Dec;58(12):703-15. doi: 10.1080/15216540601115960. PMID: 17424909

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