1. Administration of gamma‐hydroxybutyrate instead of beta‐hydroxybutyrate to a liver transplant recipient suffering from propionic acidemia and cardiomyopathy: A case report on a medication prescribing error. Issue 1 (3rd January 2020) Authors: Tuchmann‐Durand, Caroline; Thevenet, Eloise; Moulin, Florence; Lesage, Fabrice; Bouchereau, Juliette; Oualha, Mehdi; Khraiche, Diala; Brassier, Anaïs; Wicker, Camille; Gobin‐Limballe, Stéphanie; Arnoux, Jean‐Baptiste; Lacaille, Florence; Wicart, Clotilde; Coat, Bruno; Schlattler, Joel; Cisternino... Journal: JIMD reports Issue: Volume 51:Issue 1(2020) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adult‐onset diagnosis of urea cycle disorders: Results of a French cohort of 71 patients. Issue 5 (7th June 2021) Authors: Toquet, Ségolène; Spodenkiewicz, Marta; Douillard, Claire; Maillot, François; Arnoux, Jean‐Baptiste; Damaj, Lena; Odent, Sylvie; Moreau, Caroline; Redonnet‐Vernhet, Isabelle; Mesli, Samir; Servais, Aude; Noel, Esther; Charriere, Sybill; Rigalleau, Vincent; Lavigne, Christian; Kaphan, Elsa; Rouber... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 5(2021) Page Start: 1199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Autism spectrum disorders in propionic acidemia patients. Issue 4 (30th August 2017) Authors: de la Bâtie, Caroline Dejean; Barbier, Valérie; Roda, Célina; Brassier, Anaïs; Arnoux, Jean‐Baptiste; Valayannopoulos, Vassili; Guemann, Anne‐Sophie; Pontoizeau, Clément; Gobin, Stéphanie; Habarou, Florence; Lacaille, Florence; Bonnefont, Jean‐Paul; Canouï, Pierre; Ottolenghi, Chris; De Lonlay, P... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 4(2018) Page Start: 623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. Issue 1 (18th September 2017) Authors: Kuster, Alice; Arnoux, Jean‐Baptiste; Barth, Magalie; Lamireau, Delphine; Houcinat, Nada; Goizet, Cyril; Doray, Bérénice; Gobin, Stéphanie; Schiff, Manuel; Cano, Aline; Amsallem, Daniel; Barnerias, Christine; Chaumette, Boris; Plaze, Marion; Slama, Abdelhamid; Ioos, Christine; Desguerre, Isabelle... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 1(2018) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria. Issue 1 (9th November 2021) Authors: Olsson, Birgitta; Ranganath, Lakshminarayan; Arnoux, Jean‐Baptiste; Imrich, Richard; Milan, Anna; Rudebeck, Mattias Journal: JIMD reports Issue: Volume 63:Issue 1(2022) Page Start: 41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism. Issue 4 (28th January 2021) Authors: Saint‐Martin, Cécile; Cauchois‐Le Mière, Marine; Rex, Emily; Soukarieh, Omar; Arnoux, Jean‐Baptiste; Buratti, Julien; Bouvet, Delphine; Frébourg, Thierry; Gaildrat, Pascaline; Shyng, Show‐Ling; Bellanné‐Chantelot, Christine; Martins, Alexandra Journal: Human mutation Issue: Volume 42:Issue 4(2021) Page Start: 408 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria. Issue 4 (5th February 2020) Authors: Ranganath, Lakshminarayan R.; Milan, Anna M.; Hughes, Andrew T.; Khedr, Milad; Davison, Andrew S.; Shweihdi, Ella; Norman, Brendan P.; Hughes, Juliette H.; Bygott, Helen; Luangrath, Emily; Fitzgerald, Richard; Psarelli, Eftychia E.; van Kan, Christa; Laan, Dinny; Olsson, Birgitta; Rudebeck, Matti... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 4(2020) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index. Issue 4 (10th May 2022) Authors: Cant, Harriet E. O.; Chatzidaki, Iro; Olsson, Birgitta; Rudebeck, Mattias; Arnoux, Jean‐Baptiste; Imrich, Richard; Eddowes, Lucy A.; Ranganath, Lakshminarayan R. Journal: JIMD reports Issue: Volume 63:Issue 4(2022) Page Start: 361 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗