1. Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Issue 5 (22nd April 2016) Authors: Posset, Roland; Garcia‐Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi‐Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B.; Burgard, Peter; Cortès‐Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L.; Sykut‐Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M.; Chakrapa... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 5(2016) Page Start: 661 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Approach to hypoglycaemia in childhood. Issue 6 (June 2017) Authors: Sreekantam, Srividya; Kershaw, Melanie; Webster, Rachel; Chakrapani, Anupam; Santra, Saikat Journal: Paediatrics and child health Issue: Volume 27:Issue 6(2017) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. Issue 1 (December 2016) Authors: Valayannopoulos, Vassili; Baruteau, Julien; Delgado, Maria; Cano, Aline; Couce, Maria; Del Toro, Mireia; Donati, Maria; Garcia-Cazorla, Angeles; Gil-Ortega, David; Gomez-de Quero, Pedro; Guffon, Nathalie; Hofstede, Floris; Kalkan-Ucar, Sema; Coker, Mahmut; Lama-More, Rosa; Martinez-Pardo Casanova... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Issue 4 (12th January 2018) Authors: Posset, Roland; Garcia‐Cazorla, Angeles; Valayannopoulos, Vassili; Leão Teles, Elisa; Dionisi‐Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B.; Burgard, Peter; Cortès‐Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L.; Sykut‐Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M.; Chakrapa... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 4(2018) Page Start: 743 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. (June 2021) Authors: Forny, Patrick; Footitt, Emma; Davison, James E.; Lam, Amanda; Woodward, Cathy E.; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A.; Scott, Richard; Heales, Simon; Jacques, Thomas S.; Cullup, Thomas; Rahman, Shamima Journal: Neurology Issue: Volume 7:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders. Issue 2 (2nd February 2022) Authors: Yeo, Mildrid; Rehsi, Preeya; Dorman, Megan; Grunewald, Stephanie; Baruteau, Julien; Chakrapani, Anupam; Footitt, Emma; Prunty, Helen; McSweeney, Melanie Journal: JIMD reports Issue: Volume 63:Issue 2(2022) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. Issue 6 (16th June 2015) Authors: Kölker, Stefan; Cazorla, Angeles Garcia; Valayannopoulos, Vassili; Lund, Allan M.; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Augoustides‐Savvopoulou, Persephone; Aksglaede, Lise; Arnoux, Jean... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Issue 6 (16th June 2015) Authors: Kölker, Stefan; Valayannopoulos, Vassili; Burlina, Alberto B.; Sykut‐Cegielska, Jolanta; Wijburg, Frits A.; Teles, Elisa Leão; Zeman, Jiri; Dionisi‐Vici, Carlo; Barić, Ivo; Karall, Daniela; Arnoux, Jean‐Baptiste; Avram, Paula; Baumgartner, Matthias R.; Blasco‐Alonso, Javier; Boy, S. P. Nikolas; R... Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Issue 2 (24th December 2021) Authors: Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; Harris, Juliette; Wakeling, Emma; Hay, Eleanor; Yeo, Mildrid; Chakrapani, Anupam; Baptista, Julia; Moore, Sandra; Yoong, Michael; Chatterjee, Fiona; Ghali, Neeti Journal: Clinical dysmorphology Issue: Volume 31:Issue 2(2022) Page Start: 66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗