Publications by authors named "Thomas Scheffner"

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.
Meena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, Ruth Richardson, Thabo M Yates, Thomas Scheffner

Eur J Hum Genet· April 2021

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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.
Bernd C Schwahn, Thomas Scheffner, Hedwig Stepman, Peter Verloo, Anibh M Das

JIMD Rep· March 2020

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Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Johannes A Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz A Zimmermann, Thomas Scheffner

Am J Hum Genet· December 2011

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Hemoglobin A1c is a reliable criterion for diagnosing type 1 diabetes in childhood and adolescence.
Stefan Ehehalt, Nils Gauger, Gunnar Blumenstock, Lutz Feldhahn, Thomas Scheffner

Pediatr Diabetes· November 2010

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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Thomas Scheffner

Brain· March 2010

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