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Page 1
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants.
JIMD Rep. 2016;29:109-113. doi: 10.1007/8904_2016_526. Epub 2016 Feb 27.
JIMD Rep. 2016.
PMID: 26920903
Free PMC article.
Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern.
Dupre T, Cuer M, Barrot S, Barnier A, Cormier-Daire V, Munnich A, Durand G, Seta N.
Dupre T, et al. Among authors: barrot s.
Clin Chem. 2001 Jan;47(1):132-4.
Clin Chem. 2001.
PMID: 11148191
No abstract available.
Item in Clipboard
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V.
de Lonlay P, et al. Among authors: barrot s.
J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14.
J Med Genet. 2001.
PMID: 11134235
Free PMC article.
Item in Clipboard
The plasma homocysteine/creatinine ratio can be used to study the implication of (C677T) MTHFR genetic variants in homocysteine homeostasis.
Cuer M, Barrot S, Jaureguy F, Manéné D, Durand G, Le Moël G.
Cuer M, et al. Among authors: barrot s.
Clin Chem. 1999 Aug;45(8 Pt 1):1312.
Clin Chem. 1999.
PMID: 10430808
No abstract available.
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