Etiology
Özgün N,
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Diagnosis
Çelik M,
Akdeniz O,
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Kirbiyik O
J Trop Pediatr
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Beutler E
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Therapy
Çelik M,
Özgün N,
Akdeniz O,
Fidan M,
Tüzün H,
İpek MŞ,
Emecan M,
Eminoğlu FT
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J Inherit Metab Dis
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Prognosis
Forte G,
Buonadonna AL,
Pantaleo A,
Fasano C,
Capodiferro D,
Grossi V,
Sanese P,
Cariola F,
De Marco K,
Lepore Signorile M,
Manghisi A,
Guglielmi AF,
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Sawyer H,
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Drousiotou A
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Obstet Gynecol Surv
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Fensom AH,
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Br Med J
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Clinical prediction guides
Forte G,
Buonadonna AL,
Pantaleo A,
Fasano C,
Capodiferro D,
Grossi V,
Sanese P,
Cariola F,
De Marco K,
Lepore Signorile M,
Manghisi A,
Guglielmi AF,
Simonetti S,
Laforgia N,
Disciglio V,
Simone C
Int J Mol Sci
2023 Dec 12;24(24)
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PMID: 38139222Free PMC Article
Stettner NM,
Cutler DJ,
Fridovich-Keil JL
Mol Genet Metab
2023 Apr;138(4):107542.
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Marín-Quílez A,
Di Buduo CA,
Benito R,
Balduini A,
Rivera J,
Bastida JM
Platelets
2023 Dec;34(1):2176699.
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Rubio-Gozalbo ME,
Derks B,
Das AM,
Meyer U,
Möslinger D,
Couce ML,
Empain A,
Ficicioglu C,
Juliá Palacios N,
De Los Santos De Pelegrin MM,
Rivera IA,
Scholl-Bürgi S,
Bosch AM,
Cassiman D,
Demirbas D,
Gautschi M,
Knerr I,
Labrune P,
Skouma A,
Verloo P,
Wortmann SB,
Treacy EP,
Timson DJ,
Berry GT
Genet Med
2021 Jan;23(1):202-210.
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Fensom AH,
Benson PF,
Blunt S
Br Med J
1974 Nov 16;4(5941):386-7.
doi: 10.1136/bmj.4.5941.386.
PMID: 4154122Free PMC Article