Search Results - "Scheffner T"

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  1. 1

    Thiamine-pyrophosphokinase-deficiency: Clinical and genotypic spectrum in 5 patients.

    Authors: Freisinger, P. Mayr, J.A. Scheffner, T. et al.

    Source: Mitochondrion. Nov2013, Vol. 13 Issue 6, p921-921. 1p.

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  2. 2

    Hemoglobin A1c is a reliable criterion for diagnosing type 1 diabetes in childhood and adolescence.

    Authors: Ehehalt S Gauger N Blumenstock G et al.

    Source: Pediatric Diabetes. Nov2010, Vol. 11 Issue 7, p446-449. 4p.

    URL: 54591841

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  3. 3

    Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence.

    Authors: Schwahn BC Scheffner T Stepman H et al.

    Source: JIMD reports [JIMD Rep] 2020 Jan 08; Vol. 52 (1), pp. 3-10. Date of Electronic Publication: 2020 Jan 08 (Print Publication: 2020).

    Publication Type: Case Reports; Journal Article

    Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

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  4. 4

    Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

    Authors: Balasubramanian M Dingemans AJM Albaba S et al.

    Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Apr; Vol. 29 (4), pp. 625-636. Date of Electronic Publication: 2021 Jan 12.

    Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

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  5. 5

    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

    Authors: Leen WG Klepper J Verbeek MM et al.

    Source: Brain : a journal of neurology [Brain] 2010 Mar; Vol. 133 (Pt 3), pp. 655-70. Date of Electronic Publication: 2010 Feb 02.

    Publication Type: Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

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  6. 6

    Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.

    Authors: Mayr JA Freisinger P Schlachter K et al.

    Source: American journal of human genetics [Am J Hum Genet] 2011 Dec 09; Vol. 89 (6), pp. 806-12.

    Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

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