11. 3‐Methylglutaconic aciduria—lessons from 50 genes and 977 patients. Issue 6 (25th January 2013) Authors: Wortmann, Saskia B.; Kluijtmans, Leo A. J.; Rodenburg, Richard J.; Sass, Jörn Oliver; Nouws, Jessica; van Kaauwen, Edwin P.; Kleefstra, Tjitske; Tranebjaerg, Lisbeth; de Vries, Maaike C.; Isohanni, Pirjo; Walter, Katharina; Alkuraya, Fowzan S.; Smuts, Izelle; Reinecke, Carolus J.; van der Westhui... Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 6(2013) Page Start: 913 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. 3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis. Issue 6 (14th September 2022) Authors: Hertzog, Ashley; Selvanathan, Arthavan; Pandithan, Dinusha; Kim, Won‐Tae; Kava, Maina P.; Boneh, Avihu; Coman, David; Tolun, Adviye Ayper; Bhattacharya, Kaustuv Journal: JIMD reports Issue: Volume 63:Issue 6(2022) Page Start: 568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
13. 50 years of newborn screening. Issue 2 (14th February 2014) Authors: Hoffmann, Georg F.; Lindner, Martin; Loeber, J. Gerard Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 2(2014) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. 9thInternational Conference On Homocysteine and One‐Carbon Metabolism – HCY2013: Trinity College Dublin, Ireland, 8‐12 September 2013. Issue 1 (24th July 2013) Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 1(2013)Supplement Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. [13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis. Issue 1 (3rd February 2021) Authors: Ficicioglu, Can; Demirbas, Didem; Derks, Britt; Pai, G. Shashidhar; Timson, David J.; Rubio‐Gozalbo, Maria Estela; Berry, Gerard T. Journal: JIMD reports Issue: Volume 59:Issue 1(2021) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease. Issue 2 (24th June 2020) Authors: Yap, Zheng Yie; Strucinska, Klaudia; Matsuzaki, Satoshi; Lee, Sukyeong; Si, Yue; Humphries, Kenneth; Tarnopolsky, Mark A.; Yoon, Wan Hee Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 2(2021) Page Start: 388 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. A brief overview of galactosemia newborn screening in the United States. Issue 4 (22nd March 2014) Authors: Pyhtila, Brook M.; Shaw, Kelly A.; Neumann, Samantha E.; Fridovich‐Keil, Judith L. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 4(2014) Page Start: 649 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor. Issue 1 (23rd July 2019) Authors: Khalaf, Dina; Bell, Heather; Dale, David; Gupta, Vikas; Faghfoury, Hanna; Morel, Chantal F.; Tierens, Anne; Weinstein, David A.; Yan, Jiong; Thyagu, Santhosh; Maze, Dawn Journal: JIMD reports Issue: Volume 49:Issue 1(2019) Page Start: 37 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia. Issue 6 (5th March 2019) Authors: Khoja, Suhail; Nitzahn, Matthew; Truong, Brian; Lambert, Jenna; Willis, Brandon; Allegri, Gabriella; Rüfenacht, Véronique; Häberle, Johannes; Lipshutz, Gerald S. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 6(2019) Page Start: 1044 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. A cross‐sectional natural history study of aspartylglucosaminuria. Issue 5 (14th July 2022) Authors: Goodspeed, Kimberly; Horton, Daniel; Lowden, Andrea; Sguigna, Peter V.; Booth, Timothy; Wang, Zhiyue J.; Edgar, Veronica Bordes Journal: JIMD reports Issue: Volume 63:Issue 5(2022) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗