1. Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates. Issue 206 (February 2021) Authors: Abdel-Khalik, Jonas; Hearn, Thomas; Dickson, Alison L.; Crick, Peter J.; Yutuc, Eylan; Austin-Muttitt, Karl; Bigger, Brian W.; Morris, Andrew A.; Shackleton, Cedric H.; Clayton, Peter T.; Iida, Takashi; Sircar, Ria; Rohatgi, Rajat; Marschall, Hanns-Ulrich; Sjövall, Jan; Björkhem, Ingemar; Mullins... Journal: Journal of steroid biochemistry and molecular biology Issue: Issue 206(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. Issue 1 (30th May 2015) Authors: Huemer, Martina; Mulder‐Bleile, Regina; Burda, Patricie; Froese, D. Sean; Suormala, Terttu; Zeev, Bruria Ben; Chinnery, Patrick F.; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Gökcay, Gülden; Demirkol, Mübeccel; Häberle, Johannes; Lossos, Alexander; Mengel, Eugen; Morris, Andrew A.; Niezen‐Koning, Kl... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Current management of children and young people with heterozygous familial hypercholesterolaemia - HEART UK statement of care. (November 2019) Authors: Ramaswami, Uma; Humphries, Steve E.; Priestley-Barnham, Lorraine; Green, Peter; Wald, David S.; Capps, Nigel; Anderson, Mark; Dale, Peter; Morris, Andrew A. Journal: Atherosclerosis Issue: Volume 290(2019) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Issue 3 (1st March 2017) Authors: Baruteau, Julien; Jameson, Elisabeth; Morris, Andrew A.; Chakrapani, Anupam; Santra, Saikat; Vijay, Suresh; Kocadag, Huriye; Beesley, Clare E.; Grunewald, Stephanie; Murphy, Elaine; Cleary, Maureen; Mundy, Helen; Abulhoul, Lara; Broomfield, Alexander; Lachmann, Robin; Rahman, Yusof; Robinson, Pet... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Issue 3 (17th February 2019) Authors: Hayhurst, Hannah; de Coo, Irenaeus F. M.; Piekutowska‐Abramczuk, Dorota; Alston, Charlotte L.; Sharma, Sunil; Thompson, Kyle; Rius, Rocio; He, Langping; Hopton, Sila; Ploski, Rafal; Ciara, Elzbieta; Lake, Nicole J.; Compton, Alison G.; Delatycki, Martin B.; Verrips, Aad; Bonnen, Penelope E.; Jone... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 3(2019) Page Start: 515 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Newborn screening for homocystinurias: Recent recommendations versus current practice. Issue 1 (11th February 2019) Authors: Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi‐Vici, Carlo; Gleich, Florian; Morris, Andrew A.; Kožich, Viktor; Huemer, Martina; Barić, Ivo; Ben‐Omran, Tawfeq; Blasco‐Alonso, Javi... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 128 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry. Issue 2 (17th February 2019) Authors: Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi‐Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana;... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 2(2019) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. Issue 169 (May 2017) Authors: Griffiths, William J.; Abdel-Khalik, Jonas; Crick, Peter J.; Ogundare, Michael; Shackleton, Cedric H.; Tuschl, Karin; Kwok, Mei Kwun; Bigger, Brian W.; Morris, Andrew A.; Honda, Akira; Xu, Libin; Porter, Ned A.; Björkhem, Ingemar; Clayton, Peter T.; Wang, Yuqin Journal: Journal of steroid biochemistry and molecular biology Issue: Issue 169(2017) Page Start: 77 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗