Etiology
Minervini G,
Franco R,
Marrapodi MM,
Mehta V,
Fiorillo L,
Badnjević A,
Cervino G,
Cicciù M
Medicina (Kaunas)
2023 Mar 28;59(4)
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PMID: 37109627Free PMC Article
Stirnemann J,
Belmatoug N,
Camou F,
Serratrice C,
Froissart R,
Caillaud C,
Levade T,
Astudillo L,
Serratrice J,
Brassier A,
Rose C,
Billette de Villemeur T,
Berger MG
Int J Mol Sci
2017 Feb 17;18(2)
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Cox TM,
Rosenbloom BE,
Barker RA
Am J Hematol
2015 Jul;90 Suppl 1:S25-8.
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PMID: 26096744
Rosenbaum H
Thromb Res
2015 Feb;135 Suppl 1:S49-51.
Epub 2015 Feb 9
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PMID: 25903536
Rosenbaum H,
Aharon-Peretz J,
Brenner B
Semin Thromb Hemost
2013 Nov;39(8):928-34.
Epub 2013 Oct 15
doi: 10.1055/s-0033-1357485.
PMID: 24129683
Diagnosis
Şoroğlu CV,
Berkay EG
J Cell Mol Med
2024 Oct;28(20):e70087.
doi: 10.1111/jcmm.70087.
PMID: 39463025Free PMC Article
Minervini G,
Franco R,
Marrapodi MM,
Mehta V,
Fiorillo L,
Badnjević A,
Cervino G,
Cicciù M
Medicina (Kaunas)
2023 Mar 28;59(4)
doi: 10.3390/medicina59040670.
PMID: 37109627Free PMC Article
Stirnemann J,
Belmatoug N,
Camou F,
Serratrice C,
Froissart R,
Caillaud C,
Levade T,
Astudillo L,
Serratrice J,
Brassier A,
Rose C,
Billette de Villemeur T,
Berger MG
Int J Mol Sci
2017 Feb 17;18(2)
doi: 10.3390/ijms18020441.
PMID: 28218669Free PMC Article
Rosenbaum H
Thromb Res
2015 Feb;135 Suppl 1:S49-51.
Epub 2015 Feb 9
doi: 10.1016/S0049-3848(15)50443-X.
PMID: 25903536
Mignot C,
Gelot A,
De Villemeur TB
Handb Clin Neurol
2013;113:1709-15.
doi: 10.1016/B978-0-444-59565-2.00040-X.
PMID: 23622393
Therapy
Kilic A,
Emecen Sanli M,
Ozsaydı Aktasoglu E,
Gokalp S,
Biberoğlu G,
Inci A,
Okur I,
Suheyl Ezgu F,
Tumer L
J Pediatr Endocrinol Metab
2024 May 27;37(5):413-418.
Epub 2024 Apr 17
doi: 10.1515/jpem-2023-0504.
PMID: 38624096
Kulkarni A,
Chen T,
Sidransky E,
Han TU
Genes (Basel)
2024 Mar 15;15(3)
doi: 10.3390/genes15030364.
PMID: 38540423Free PMC Article
Zhang P,
Zheng MF,
Cui SY,
Zhang W,
Gao RP
Endocr Metab Immune Disord Drug Targets
2022;22(6):658-662.
doi: 10.2174/1871530321666211119145230.
PMID: 34802413
Mignot C,
Gelot A,
De Villemeur TB
Handb Clin Neurol
2013;113:1709-15.
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PMID: 23622393
Goker-Alpan O
Mol Genet Metab
2011 Dec;104(4):438-47.
Epub 2011 Aug 11
doi: 10.1016/j.ymgme.2011.08.004.
PMID: 21889384
Prognosis
Sabljak J,
Heath O,
Halligan R,
Cheng DR
BMJ Case Rep
2023 Sep 29;16(9)
doi: 10.1136/bcr-2023-256368.
PMID: 37775277Free PMC Article
Stirnemann J,
Belmatoug N,
Camou F,
Serratrice C,
Froissart R,
Caillaud C,
Levade T,
Astudillo L,
Serratrice J,
Brassier A,
Rose C,
Billette de Villemeur T,
Berger MG
Int J Mol Sci
2017 Feb 17;18(2)
doi: 10.3390/ijms18020441.
PMID: 28218669Free PMC Article
Rosenbaum H,
Aharon-Peretz J,
Brenner B
Semin Thromb Hemost
2013 Nov;39(8):928-34.
Epub 2013 Oct 15
doi: 10.1055/s-0033-1357485.
PMID: 24129683
Elstein D,
Abrahamov A,
Dweck A,
Hadas-Halpern I,
Zimran A
Paediatr Drugs
2002;4(7):417-26.
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PMID: 12083970
Cox TM
J Inherit Metab Dis
2001;24 Suppl 2:106-21; discussion 87-8.
doi: 10.1023/a:1012496514170.
PMID: 11758671
Clinical prediction guides
Danilov SM,
Tikhomirova VE,
Metzger R,
Naperova IA,
Bukina TM,
Goker-Alpan O,
Tayebi N,
Gayfullin NM,
Schwartz DE,
Samokhodskaya LM,
Kost OA,
Sidransky E
Mol Genet Metab
2018 Apr;123(4):501-510.
Epub 2018 Feb 17
doi: 10.1016/j.ymgme.2018.02.007.
PMID: 29478818Free PMC Article
Rosenbaum H,
Aharon-Peretz J,
Brenner B
Semin Thromb Hemost
2013 Nov;39(8):928-34.
Epub 2013 Oct 15
doi: 10.1055/s-0033-1357485.
PMID: 24129683
Mignot C,
Gelot A,
De Villemeur TB
Handb Clin Neurol
2013;113:1709-15.
doi: 10.1016/B978-0-444-59565-2.00040-X.
PMID: 23622393
Elstein D,
Abrahamov A,
Dweck A,
Hadas-Halpern I,
Zimran A
Paediatr Drugs
2002;4(7):417-26.
doi: 10.2165/00128072-200204070-00001.
PMID: 12083970
Dingemans KP,
Mooi WJ,
van den Bergh Weerman MA
Ultrastruct Pathol
1983 Sep-Oct;5(2-3):113-22.
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PMID: 6199876