Search Results - "Scheffner T"

Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay.

Authors: Jiao, Jun-Ping Zhang, Hong-Wei Zhou, Xi-Zhong et al.

Source: Orphanet Journal of Rare Diseases. 7/28/2025, Vol. 20 Issue 1, p1-11. 11p.

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

Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.

Authors: Imbard, Apolline Toumazi, Artemis Magréault, Sophie et al.

Source: Orphanet Journal of Rare Diseases. 11/14/2022, Vol. 17 Issue 1, p1-13. 13p.

Prevalence and prognosis of fulminant type 1 diabetes mellitus in The Middle East: a comparative analysis in a 5-year nationwide cohort.

Authors: Ata, Fateen Khan, Adeel Ahmad Khamees, Ibrahim et al.

Source: BMC Endocrine Disorders. 3/11/2024, Vol. 24 Issue 1, p1-7. 7p.

Movement disorders in GLUT1 deficiency syndrome: a systematic review of the literature.

Authors: Bercini Z Gessani A Rossi J et al.

Source: Journal of neurology [J Neurol] 2026 Jul 06; Vol. 273 (8). Date of Electronic Publication: 2026 Jul 06.

Publication Type: Journal Article; Systematic Review; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Distinct changes to pancreatic volume rather than pancreatic autoantibody positivity: insights into immune checkpoint inhibitors induced diabetes mellitus.

Authors: Wei, Hung-Hui Lai, Ying-Chieh Lin, Gigin et al.

Source: Diabetology & Metabolic Syndrome. 1/23/2024, Vol. 16 Issue 1, p1-10. 10p.

SARS-CoV-2 Positive Serology and Islet Autoantibodies in Newly Diagnosed Pediatric Cases of Type 1 Diabetes Mellitus: A Single-Center Cohort Study.

Authors: Boboc, Anca Andreea Novac, Carmen Nicoleta Marin, Alexandra Gabriela et al.

Source: International Journal of Molecular Sciences. May2023, Vol. 24 Issue 10, p8885. 13p.

Glucose transporter 1 deficiency impairs glucose homeostasis, cell proliferation, and morphology in human embryonic kidney cells 293.

Authors: Mehta Y Al-Ahmad AJ

Source: Cell and tissue research [Cell Tissue Res] 2026 Mar 25; Vol. 404 (1). Date of Electronic Publication: 2026 Mar 25.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0417625 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0878 (Electronic) Linking ISSN: 0302766X NLM ISO Abbreviation: Cell Tissue Res Subsets: MEDLINE

A framework for exhaustively mapping functional missense variants.

Authors: Weile, Jochen Sun, Song Cote, Atina G et al.

Source: Molecular Systems Biology. Dec2017, Vol. 13 Issue 12, p1-N.PAG. 17p.

Mechanisms of Non-coenzyme Action of Thiamine: Protein Targets and Medical Significance.

Authors: Aleshin, V. A. Mkrtchyan, G. V. Bunik, V. I.

Source: Biochemistry (Moscow). Aug2019, Vol. 84 Issue 8, p829-850. 22p.

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Characterization of peptides bound to the class I MHC molecule HLA-A2.1 by mass spectrometry.

Authors: Hunt, D.F. Henderson, R.A.

Source: Science (pre-March 2025). 3/6/1992, Vol. 255 Issue 5049, p1261. 3p. 1 Chart, 4 Graphs.

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

Authors: Bugiardini, Enrico Pope, Simon Feichtinger, René G. et al.

Source: Journal of Clinical Medicine. Oct2019, Vol. 8 Issue 10, p991. 1p.

Association between gastrointestinal tract infections and glycated hemoglobin in school children of poor neighborhoods in Port Elizabeth, South Africa.

Authors: Htun, Nan Shwe Nwe Odermatt, Peter Müller, Ivan et al.

Source: PLoS Neglected Tropical Diseases. 3/15/2018, Vol. 12 Issue 3, p1-17. 17p.

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Thiamine transporter-2 deficiency: outcome and treatment monitoring.

Authors: Ortigoza-Escobar, Juan Darío Serrano, Mercedes Molero, Marta et al.

Source: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p1-21. 21p.

Next-generation sequencing for mitochondrial disorders.

Authors: Carroll, C J Brilhante, V Suomalainen, A

Source: British Journal of Pharmacology. Apr2014, Vol. 171 Issue 8, p1837-1853. 17p.

SSIEM Author Index for the Abstracts for the Annual Symposium, Lyon, France, 1-4 September 2015.

Source: Journal of inherited metabolic disease Sep2015 Supplement; Vol. 38.

Journal Info: Publisher: Wiley-Blackwell ISSN: 0141-8955

Episodic Ataxias: Faux or Real?

Authors: Giunti, Paola Mantuano, Elide Frontali, Marina

Source: International Journal of Molecular Sciences. Sep2020, Vol. 21 Issue 18, p6472-6472. 1p.

Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways.

Authors: Tang, Jia Xin Thompson, Kyle Taylor, Robert W. et al.

Source: International Journal of Molecular Sciences. Jun2020, Vol. 21 Issue 11, p3820-3820. 1p.