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Lipoprotein(a) deficiency, congenital

MedGen UID:
331958
•Concept ID:
C1835362
•
Disease or Syndrome
Synonyms: Lipoprotein(A) Deficiency, Congenital; Lp(A) Deficiency, Congenital
 
OMIM®: 152200; 618807

Recent clinical studies

Etiology

Thrombophilic states.
Martinelli I, Passamonti SM, Bucciarelli P
Handb Clin Neurol 2014;120:1061-71. doi: 10.1016/B978-0-7020-4087-0.00071-1. PMID: 24365371
Inherited prothrombotic risk factors in children with first ischemic stroke.
Zadro R, Herak DC
Biochem Med (Zagreb) 2012;22(3):298-310. doi: 10.11613/bm.2012.033. PMID: 23092062Free PMC Article
Neonatal thromboembolism.
Nowak-Göttl U, Kosch A, Schlegel N
Semin Thromb Hemost 2003 Apr;29(2):227-34. doi: 10.1055/s-2003-38839. PMID: 12709927
Factor V Leiden, protein C, and lipoprotein (a) in catheter-related thrombosis in childhood: a prospective study.
Nowak-Göttl U, Dübbers A, Kececioglu D, Koch HG, Kotthoff S, Runde J, Vielhaber H
J Pediatr 1997 Oct;131(4):608-12. doi: 10.1016/s0022-3476(97)70071-4. PMID: 9386668
Effects of androgens on haemostasis.
Winkler UH
Maturitas 1996 Jul;24(3):147-55. doi: 10.1016/s0378-5122(96)82004-4. PMID: 8844628

Diagnosis

Thrombophilic states.
Martinelli I, Passamonti SM, Bucciarelli P
Handb Clin Neurol 2014;120:1061-71. doi: 10.1016/B978-0-7020-4087-0.00071-1. PMID: 24365371
Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency.
Herrmann BL, Janssen OE, Hahn S, Broecker-Preuss M, Mann K
Horm Metab Res 2005 Mar;37(3):178-83. doi: 10.1055/s-2005-861292. PMID: 15824973
Neonatal thromboembolism.
Nowak-Göttl U, Kosch A, Schlegel N
Semin Thromb Hemost 2003 Apr;29(2):227-34. doi: 10.1055/s-2003-38839. PMID: 12709927
Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly.
Debus O, Koch HG, Kurlemann G, Sträter R, Vielhaber H, Weber P, Nowak-Göttl U
Arch Dis Child Fetal Neonatal Ed 1998 Mar;78(2):F121-4. doi: 10.1136/fn.78.2.f121. PMID: 9577282Free PMC Article
Factor V Leiden, protein C, and lipoprotein (a) in catheter-related thrombosis in childhood: a prospective study.
Nowak-Göttl U, Dübbers A, Kececioglu D, Koch HG, Kotthoff S, Runde J, Vielhaber H
J Pediatr 1997 Oct;131(4):608-12. doi: 10.1016/s0022-3476(97)70071-4. PMID: 9386668

Therapy

Inherited prothrombotic risk factors in children with first ischemic stroke.
Zadro R, Herak DC
Biochem Med (Zagreb) 2012;22(3):298-310. doi: 10.11613/bm.2012.033. PMID: 23092062Free PMC Article
Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency.
Herrmann BL, Janssen OE, Hahn S, Broecker-Preuss M, Mann K
Horm Metab Res 2005 Mar;37(3):178-83. doi: 10.1055/s-2005-861292. PMID: 15824973
Factor V Leiden, protein C, and lipoprotein (a) in catheter-related thrombosis in childhood: a prospective study.
Nowak-Göttl U, Dübbers A, Kececioglu D, Koch HG, Kotthoff S, Runde J, Vielhaber H
J Pediatr 1997 Oct;131(4):608-12. doi: 10.1016/s0022-3476(97)70071-4. PMID: 9386668
Effects of androgens on haemostasis.
Winkler UH
Maturitas 1996 Jul;24(3):147-55. doi: 10.1016/s0378-5122(96)82004-4. PMID: 8844628
Congenital protein C deficiency and myocardial infarction:concomitant factor VII hyperactivity may play a role in the onset of arterial thrombosis.
Kario K, Matsuo T, Tai S, Sakamoto S, Yamada T, Miki T, Matsuo M
Thromb Res 1992 Jul 1;67(1):95-103. doi: 10.1016/0049-3848(92)90261-8. PMID: 1440517

Prognosis

Prospective assessment of risk factors for recurrent stroke during childhood--a 5-year follow-up study.
Sträter R, Becker S, von Eckardstein A, Heinecke A, Gutsche S, Junker R, Kurnik K, Schobess R, Nowak-Göttl U
Lancet 2002 Nov 16;360(9345):1540-5. doi: 10.1016/S0140-6736(02)11520-0. PMID: 12443591

Clinical prediction guides

Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency.
Herrmann BL, Janssen OE, Hahn S, Broecker-Preuss M, Mann K
Horm Metab Res 2005 Mar;37(3):178-83. doi: 10.1055/s-2005-861292. PMID: 15824973

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