Till C - Search Results

1

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.

Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Among authors: till c. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828

2

Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.

Kalim A, Fitzsimons P, Till C, Fernando M, Mayne P, Sass JO, Crushell E. Kalim A, et al. Among authors: till c. Brain Dev. 2017 Jun;39(6):536-538. doi: 10.1016/j.braindev.2017.01.005. Epub 2017 Feb 9. Brain Dev. 2017. PMID: 28190537

3

d-Glycerate kinase deficiency in a neuropediatric patient.

Sass JO, Behringer S, Fernando M, Cesaroni E, Cursio I, Volpini A, Till C. Sass JO, et al. Among authors: till c. Brain Dev. 2020 Feb;42(2):226-230. doi: 10.1016/j.braindev.2019.11.008. Epub 2019 Dec 11. Brain Dev. 2020. PMID: 31837836

4

Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.

Balasubramaniam S, Lewis B, Greed L, Meili D, Flier A, Yamamoto R, Bilić K, Till C, Sass JO. Balasubramaniam S, et al. Among authors: till c. JIMD Rep. 2016;29:33-38. doi: 10.1007/8904_2015_519. Epub 2015 Nov 26. JIMD Rep. 2016. PMID: 26608392 Free PMC article.

5

Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid.

Tsortouktzidis D, Grundke K, Till C, Korwitz-Reichelt A, Sass JO. Tsortouktzidis D, et al. Among authors: till c. Metab Brain Dis. 2019 Dec;34(6):1629-1634. doi: 10.1007/s11011-019-00470-9. Epub 2019 Jul 30. Metab Brain Dis. 2019. PMID: 31363986

6

Neighborhood socioeconomic deprivation and patient-reported outcomes in symptom management trials for women with breast cancer.

Vaidya R, Till C, Henry NL, Fisch MJ, Hershman DL, Unger JM. Vaidya R, et al. Among authors: till c. Breast Cancer Res Treat. 2024 Nov 19. doi: 10.1007/s10549-024-07523-3. Online ahead of print. Breast Cancer Res Treat. 2024. PMID: 39560823

7

Long-Term Adverse Effects and Complications After Prostate Cancer Treatment.

Unger JM, Till C, Tangen CM, Hershman DL, Goodman PJ, LeBlanc M, Barlow WE, Vaidya R, Minasian LM, Parnes HL, Thompson IM Jr. Unger JM, et al. Among authors: till c. JAMA Oncol. 2024 Nov 7;10(12):1654-62. doi: 10.1001/jamaoncol.2024.4397. Online ahead of print. JAMA Oncol. 2024. PMID: 39509091

8

Smoking prevalence and association with sociodemographic variables in cancer clinical trial participants.

Presant CA, Till C, Vaidya R, Ashing KT, Warren GW, Sun V, Salgia R, Massarelli E, Mortimer JE, Pal S, Dorff T, Amini A, Erhunmwunsee L, Phillips T, Hershman DL, Unger JM. Presant CA, et al. Among authors: till c. Cancer. 2024 Sep 16. doi: 10.1002/cncr.35560. Online ahead of print. Cancer. 2024. PMID: 39283236

9

Performance of the Social Responsiveness Scale-2 for the Assessment of Autistic Behaviors in a Sample of Canadian Preschool-Aged Children.

Carty A, Green R, Goodman CV, McLaughlin JR, Hu H, Lanphear B, Muckle G, Till C. Carty A, et al. Among authors: till c. J Autism Dev Disord. 2024 Aug 5. doi: 10.1007/s10803-024-06487-z. Online ahead of print. J Autism Dev Disord. 2024. PMID: 39102070

10

Bickerstaff Brainstem Encephalitis Presenting With Negative Anti-GM1 and Anti-GQ1B Antibodies.

Warcup A, Movio G, Dhar S, Till C. Warcup A, et al. Among authors: till c. Cureus. 2024 Jun 4;16(6):e61653. doi: 10.7759/cureus.61653. eCollection 2024 Jun. Cureus. 2024. PMID: 38966486 Free PMC article.

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