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Familial hypodysfibrinogenemia

MedGen UID:
347987
Concept ID:
C1859970
Disease or Syndrome
Synonym: Hypodysfibrinogenemia, congenital
 
Monarch Initiative: MONDO:0016638
OMIM®: 134820; 616004
Orphanet: ORPHA248408

Term Hierarchy

Professional guidelines

PubMed

Casini A, de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2016 Jun;42(4):366-74. Epub 2016 Mar 28 doi: 10.1055/s-0036-1571339. PMID: 27019462
Haverkate F, Samama M
Thromb Haemost 1995 Jan;73(1):151-61. PMID: 7740487

Recent clinical studies

Etiology

Xie X, Du J, Geng S, Yi B, Li Q, Zuo J
Hereditas 2024 Feb 20;161(1):9. doi: 10.1186/s41065-024-00313-3. PMID: 38374144Free PMC Article
Castaman G, Giacomelli SH, Biasoli C, Contino L, Radossi P
Eur J Haematol 2019 Oct;103(4):379-384. Epub 2019 Aug 1 doi: 10.1111/ejh.13296. PMID: 31314131
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Casini A, de Moerloose P
Haemophilia 2016 Sep;22(5):667-75. Epub 2016 Jun 13 doi: 10.1111/hae.12967. PMID: 27293018
Casini A, de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2016 Jun;42(4):366-74. Epub 2016 Mar 28 doi: 10.1055/s-0036-1571339. PMID: 27019462

Diagnosis

Xie X, Du J, Geng S, Yi B, Li Q, Zuo J
Hereditas 2024 Feb 20;161(1):9. doi: 10.1186/s41065-024-00313-3. PMID: 38374144Free PMC Article
Fager Ferrari M, Leinoe E, Rossing M, Norström E, Zetterberg E
Blood Coagul Fibrinolysis 2020 Oct;31(7):481-484. doi: 10.1097/MBC.0000000000000951. PMID: 32852326
Castaman G, Giacomelli SH, Biasoli C, Contino L, Radossi P
Eur J Haematol 2019 Oct;103(4):379-384. Epub 2019 Aug 1 doi: 10.1111/ejh.13296. PMID: 31314131
Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P
J Thromb Haemost 2017 May;15(5):876-888. Epub 2017 Mar 6 doi: 10.1111/jth.13655. PMID: 28211264
Shen YM, Sarode R, Bhogaraju A, Brennan S
Blood Coagul Fibrinolysis 2011 Oct;22(7):613-5. doi: 10.1097/MBC.0b013e328349f1b8. PMID: 21959590

Therapy

Casini A, de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2016 Jun;42(4):366-74. Epub 2016 Mar 28 doi: 10.1055/s-0036-1571339. PMID: 27019462

Prognosis

Amri Y, Jouini H, Becheur M, Dabboubi R, Mahjoub B, Messaoud T, Sfar MT, Casini A, de Moerloose P, Toumi NEH
Haemophilia 2017 Jul;23(4):e340-e347. Epub 2017 Jun 8 doi: 10.1111/hae.13268. PMID: 28594476
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Casini A, de Moerloose P
Haemophilia 2016 Sep;22(5):667-75. Epub 2016 Jun 13 doi: 10.1111/hae.12967. PMID: 27293018
Casini A, de Moerloose P, Neerman-Arbez M
Semin Thromb Hemost 2016 Jun;42(4):366-74. Epub 2016 Mar 28 doi: 10.1055/s-0036-1571339. PMID: 27019462
Lefebvre P, Velasco PT, Dear A, Lounes KC, Lord ST, Brennan SO, Green D, Lorand L
Blood 2004 Apr 1;103(7):2571-6. Epub 2003 Nov 13 doi: 10.1182/blood-2003-07-2316. PMID: 14615374

Clinical prediction guides

Xie X, Du J, Geng S, Yi B, Li Q, Zuo J
Hereditas 2024 Feb 20;161(1):9. doi: 10.1186/s41065-024-00313-3. PMID: 38374144Free PMC Article
Amri Y, Jouini H, Becheur M, Dabboubi R, Mahjoub B, Messaoud T, Sfar MT, Casini A, de Moerloose P, Toumi NEH
Haemophilia 2017 Jul;23(4):e340-e347. Epub 2017 Jun 8 doi: 10.1111/hae.13268. PMID: 28594476
Lebreton A, Casini A
Ann Biol Clin (Paris) 2016 Aug 1;74(4):405-12. doi: 10.1684/abc.2016.1167. PMID: 27492693
Casini A, de Moerloose P
Haemophilia 2016 Sep;22(5):667-75. Epub 2016 Jun 13 doi: 10.1111/hae.12967. PMID: 27293018
Soria J, Soria C, Hedner U, Nilsson IM, Bergqvist D, Samama M
Br J Haematol 1985 Dec;61(4):727-38. doi: 10.1111/j.1365-2141.1985.tb02887.x. PMID: 4084461

Recent systematic reviews

Casini A, Brungs T, Lavenu-Bombled C, Vilar R, Neerman-Arbez M, de Moerloose P
J Thromb Haemost 2017 May;15(5):876-888. Epub 2017 Mar 6 doi: 10.1111/jth.13655. PMID: 28211264

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