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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
Brain. 2010.
PMID: 20129935
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Balasubramanian M, Dingemans AJM, Albaba S, Richardson R, Yates TM, Cox H, Douzgou S, Armstrong R, Sansbury FH, Burke KB, Fry AE, Ragge N, Sharif S, Foster A, De Sandre-Giovannoli A, Elouej S, Vasudevan P, Mansour S, Wilson K, Stewart H, Heide S, Nava C, Keren B, Demirdas S, Brooks AS, Vincent M, Isidor B, Küry S, Schouten M, Leenders E, Chung WK, Haeringen AV, Scheffner T, Debray FG, White SM, Palafoll MIV, Pfundt R, Newbury-Ecob R, Kleefstra T.
Balasubramanian M, et al. Among authors: scheffner t.
Eur J Hum Genet. 2021 Apr;29(4):625-636. doi: 10.1038/s41431-020-00769-7. Epub 2021 Jan 12.
Eur J Hum Genet. 2021.
PMID: 33437032
Free PMC article.
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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.
Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A.
Schwahn BC, et al. Among authors: scheffner t.
JIMD Rep. 2020 Jan 8;52(1):3-10. doi: 10.1002/jmd2.12092. eCollection 2020 Mar.
JIMD Rep. 2020.
PMID: 32154053
Free PMC article.
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Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, Haack TB, Koch J, Ahting U, Prokisch H, Sperl W.
Mayr JA, et al. Among authors: scheffner t.
Am J Hum Genet. 2011 Dec 9;89(6):806-12. doi: 10.1016/j.ajhg.2011.11.007.
Am J Hum Genet. 2011.
PMID: 22152682
Free PMC article.
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Hemoglobin A1c is a reliable criterion for diagnosing type 1 diabetes in childhood and adolescence.
Ehehalt S, Gauger N, Blumenstock G, Feldhahn L, Scheffner T, Schweizer R, Neu A; DIARY-Group Baden-Wuerttemberg.
Ehehalt S, et al. Among authors: scheffner t.
Pediatr Diabetes. 2010 Nov;11(7):446-9. doi: 10.1111/j.1399-5448.2009.00633.x.
Pediatr Diabetes. 2010.
PMID: 20149124
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