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Stampfer M,
Coll MJ,
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Mathieson T,
Green J,
Dardis A,
Bembi B,
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Vanier MT,
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Jones S,
Santra S,
Crushell E,
Stampfer M,
Coll MJ,
Dawson C,
Mathieson T,
Green J,
Dardis A,
Bembi B,
Patterson MC,
Vanier MT,
Geberhiwot T
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Caviglia S,
Federico A,
Palmeri S,
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O'Callaghan M,
Vilaseca MA,
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Domingo R,
Portal LR,
Pérez AV,
Temudo T,
Gaspar A,
Peñas JJ,
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Bruschini D,
Mansi G,
Bembi B,
Dardis A,
Fiumara A,
Di Rocco M,
Uziel G,
Ardissone A,
Roccatello D,
Alpa M,
Bertini E,
D'Amico A,
Dionisi-Vici C,
Deodato F,
Caviglia S,
Federico A,
Palmeri S,
Gabrielli O,
Santoro L,
Filla A,
Russo C,
Parenti G,
Andria G
Orphanet J Rare Dis
2015 Feb 27;10:22.
doi: 10.1186/s13023-015-0240-y.
PMID: 25888393Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Bolton SC,
Soran V,
Marfa MP,
Imrie J,
Gissen P,
Jahnova H,
Sharma R,
Jones S,
Santra S,
Crushell E,
Stampfer M,
Coll MJ,
Dawson C,
Mathieson T,
Green J,
Dardis A,
Bembi B,
Patterson MC,
Vanier MT,
Geberhiwot T
Orphanet J Rare Dis
2022 Feb 14;17(1):51.
doi: 10.1186/s13023-022-02200-4.
PMID: 35164809Free PMC Article
Fecarotta S,
Romano A,
Della Casa R,
Del Giudice E,
Bruschini D,
Mansi G,
Bembi B,
Dardis A,
Fiumara A,
Di Rocco M,
Uziel G,
Ardissone A,
Roccatello D,
Alpa M,
Bertini E,
D'Amico A,
Dionisi-Vici C,
Deodato F,
Caviglia S,
Federico A,
Palmeri S,
Gabrielli O,
Santoro L,
Filla A,
Russo C,
Parenti G,
Andria G
Orphanet J Rare Dis
2015 Feb 27;10:22.
doi: 10.1186/s13023-015-0240-y.
PMID: 25888393Free PMC Article
Vanier MT
Orphanet J Rare Dis
2010 Jun 3;5:16.
doi: 10.1186/1750-1172-5-16.
PMID: 20525256Free PMC Article
Pineda M,
Perez-Poyato MS,
O'Callaghan M,
Vilaseca MA,
Pocovi M,
Domingo R,
Portal LR,
Pérez AV,
Temudo T,
Gaspar A,
Peñas JJ,
Roldán S,
Fumero LM,
de la Barca OB,
Silva MT,
Macías-Vidal J,
Coll MJ
Mol Genet Metab
2010 Apr;99(4):358-66.
Epub 2009 Nov 29
doi: 10.1016/j.ymgme.2009.11.007.
PMID: 20056559
Vanier MT
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