1. Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. Issue 6 (2nd August 2021) Authors: Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra; Friedman, Jennifer; Yıldız, Yılmaz; Koht, Jeanette Aimee; Wong, Suet‐Na; Zafeiriou, Dimitrios I.; López‐Laso, Eduardo; Pons, Roser; Kulhánek, Jan; Jeltsch, Kathrin; Serrano‐Lomelin, J... Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 6(2021) Page Start: 1489 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. (November 2018) Authors: Toldo, Irene; Bonardi, Claudia Maria; Bettella, Elisa; Polli, Roberta; Talenti, Giacomo; Burlina, Alberto; Sartori, Stefano; Murgia, Alessandra Journal: European journal of paediatric neurology Issue: Volume 22:Number 6(2018:Nov.) Page Start: 1042 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013. Issue 1 (December 2016) Authors: Unsinn, Caroline; Das, Anibh; Valayannopoulos, Vassili; Thimm, Eva; Beblo, Skadi; Burlina, Alberto; Konstantopoulou, Vassiliki; Mayorandan, Sebene; de Lonlay, Pascale; Rennecke, Jörg; Derbinski, Jens; Hoffmann, Georg; Häberle, Johannes 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. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. (January 2022) Authors: Ditters, Imke Anne Maartje; Huidekoper, Hidde Harmen; Kruijshaar, Michelle Elisabeth; Rizopoulos, Dimitris; Hahn, Andreas; Mongini, Tiziana Enrica; Labarthe, François; Tardieu, Marine; Chabrol, Brigitte; Brassier, Anais; Parini, Rossella; Parenti, Giancarlo; van der Beek, Nadine Anna Maria Elisab... Journal: Lancet Issue: Volume 6:Number 1(2022) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. Issue 1 (5th May 2012) Authors: Sechi, Annalisa; Deroma, Laura; Lapolla, Annunziata; Paci, Sabrina; Melis, Daniela; Burlina, Alberto; Carubbi, Francesca; Rigoldi, Miriam; Di Rocco, Maja Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 1(2013) Page Start: 83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. Issue 1 (17th October 2012) Authors: Doimo, Mara; Desbats, Maria Andrea; Baldoin, Maria Cristina; Lenzini, Elisabetta; Basso, Giuseppe; Murphy, Elaine; Graziano, Claudio; Seri, Marco; Burlina, Alberto; Sartori, Geppo; Trevisson, Eva; Salviati, Leonardo Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Issue 1 (30th November 2016) Authors: Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean‐Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L.; Garcia‐Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld‐Adams, James D.; Kožich, Viktor; Blom, Hen... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set. Issue 1 (22nd September 2020) Authors: Bösch, Florin; Landolt, Markus A.; Baumgartner, Matthias R.; Zeltner, Nina; Kölker, Stefan; Gleich, Florian; Burlina, Alberto; Cazzorla, Chiara; Packman, Wendy; V. D. Schwartz, Ida; Vieira Neto, Eduardo; Ribeiro, Márcia G.; Martinelli, Diego; Olivieri, Giorgia; Huemer, Martina Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 1(2021) Page Start: 215 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium. Issue 2 (14th November 2022) Authors: Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A.; Chien, Yin‐Hsiu; Cortès‐Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Li... Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 2(2023) Page Start: 220 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Issues with European guidelines for phenylketonuria – Authors' reply. Issue 9 (September 2017) Authors: van Spronsen, Francjan J; van Wegberg, Annemiek M J; Ahring, Kirsten; Bélanger-Quintana, Amaya; Blau, Nenad; Bosch, Annet M; Burlina, Alberto; Campistol, Jaime; Feillet, Francois; Giżewska, Maria; Huijbregts, Stephan C; Kearney, Shauna; Leuzzi, Vincenzo; Maillot, Francois; Muntau, Ania C; Trefz, ... Journal: Lancet Issue: Volume 5:Issue 9(2017) Page Start: 683 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗