Publications by authors named "Anastasia Skouma"

7 Publications

  • Page 1 of 1

True Restriction in Diffusion-Weighted Imaging in a Mistreated Patient With Phenylketonuria.

Authors:
Lina Palaiodimou Christina Zompola Stefanos Lachanis Varvara Mylona Aikaterini Theodorou Georgia Papagiannopoulou Vasiliki Kotsali-Peteinelli Aikaterini Foska Arezina Kasti Anastasia Skouma Georgios Tsivgoulis

Neurologist 2020 Dec 30;26(1):20-21. Epub 2020 Dec 30.

Second Department of Neurology, National and Kapodistrian University of Athens, School of Medicine.

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December 2020

Galactokinase deficiency: lessons from the GalNet registry.

Authors:
M Estela Rubio-Gozalbo Britt Derks Anibh Martin Das Uta Meyer Dorothea Möslinger M Luz Couce Aurélie Empain Can Ficicioglu Natalia Juliá Palacios Mariela M De Los Santos De Pelegrin Isabel A Rivera Sabine Scholl-Bürgi Annet M Bosch David Cassiman Didem Demirbas Matthias Gautschi Ina Knerr Philippe Labrune Anastasia Skouma Patrick Verloo Saskia B Wortmann Eileen P Treacy David J Timson Gerard T Berry

Genet Med 2021 Jan 18;23(1):202-210. Epub 2020 Aug 18.

Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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January 2021

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Authors:
Laura Marti-Sanchez Heidy Baide-Mairena Anna Marcé-Grau Roser Pons Anastasia Skouma Eduardo López-Laso Maria Sigatullina Cristiano Rizzo Michela Semeraro Diego Martinelli Rosalba Carrozzo Carlo Dionisi-Vici Luis González-Gutiérrez-Solana Marta Correa-Vela Juan Dario Ortigoza-Escobar Ángel Sánchez-Montañez Élida Vazquez Ignacio Delgado Sergio Aguilera-Albesa María Eugenia Yoldi Antonia Ribes Frederic Tort Luca Pollini Serena Galosi Vincenzo Leuzzi Manuela Tolve Laura Pérez-Gay Luis Aldamiz-Echevarría Mireia Del Toro Antonio Arranz Filip Roelens Roser Urreizti Rafael Artuch Alfons Macaya Belén Pérez-Dueñas

J Inherit Metab Dis 2020 Jul 17. Epub 2020 Jul 17.

Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Barcelona, Spain.

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July 2020

The Genetic Landscape and Epidemiology of Phenylketonuria.

Authors:
Alicia Hillert Yair Anikster Amaya Belanger-Quintana Alberto Burlina Barbara K Burton Carla Carducci Ana E Chiesa John Christodoulou Maja Đorđević Lourdes R Desviat Aviva Eliyahu Roeland A F Evers Lena Fajkusova François Feillet Pedro E Bonfim-Freitas Maria Giżewska Polina Gundorova Daniela Karall Katya Kneller Sergey I Kutsev Vincenzo Leuzzi Harvey L Levy Uta Lichter-Konecki Ania C Muntau Fares Namour Mariusz Oltarzewski Andrea Paras Belen Perez Emil Polak Alexander V Polyakov Francesco Porta Marianne Rohrbach Sabine Scholl-Bürgi Norma Spécola Maja Stojiljković Nan Shen Luiz C Santana-da Silva Anastasia Skouma Francjan van Spronsen Vera Stoppioni Beat Thöny Friedrich K Trefz Jerry Vockley Youngguo Yu Johannes Zschocke Georg F Hoffmann Sven F Garbade Nenad Blau

Am J Hum Genet 2020 08 14;107(2):234-250. Epub 2020 Jul 14.

Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Clinic I, University Hospital Heidelberg, 69120 Heidelberg, Germany; Division of Metabolism, University Children's Hospital, 8032 Zürich, Switzerland. Electronic address:

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August 2020

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Authors:
Johannes Häberle Alberto Burlina Anupam Chakrapani Marjorie Dixon Daniela Karall Martin Lindner Hanna Mandel Diego Martinelli Guillem Pintos-Morell René Santer Anastasia Skouma Aude Servais Galit Tal Vicente Rubio Martina Huemer Carlo Dionisi-Vici

J Inherit Metab Dis 2019 11 15;42(6):1192-1230. Epub 2019 May 15.

Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.

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November 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Authors:
Martina Huemer Daria Diodato Diego Martinelli Giorgia Olivieri Henk Blom Florian Gleich Stefan Kölker Viktor Kožich Andrew A Morris Burkhardt Seifert D Sean Froese Matthias R Baumgartner Carlo Dionisi-Vici Carlos Alcalde Martin Martina Baethmann Diana Ballhausen Javier Blasco-Alonso Nikolas Boy Maria Bueno Rosa Burgos Peláez Roberto Cerone Brigitte Chabrol Kimberly A Chapman Maria Luz Couce Ellen Crushell Jaime Dalmau Serra Luisa Diogo Can Ficicioglu Maria Concepcion García Jimenez Maria Teresa García Silva Ana Maria Gaspar Matthias Gautschi Domingo González-Lamuño Sofia Gouveia Stephanie Grünewald Chris Hendriksz Mirian C H Janssen Pavel Jesina Johannes Koch Vassiliki Konstantopoulou Christian Lavigne Allan M Lund Esmeralda G Martins Silvia Meavilla Olivas Karine Mention Fanny Mochel Helen Mundy Elaine Murphy Stephanie Paquay Consuelo Pedrón-Giner Maria Angeles Ruiz Gómez Saikat Santra Manuel Schiff Ida Vanessa Schwartz Sabine Scholl-Bürgi Aude Servais Anastasia Skouma Christel Tran Inmaculada Vives Piñera John Walter James Weisfeld-Adams

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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March 2019

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Authors:
Anna Caciotti Rodolfo Tonin Miriam Rigoldi Lorenzo Ferri Serena Catarzi Catia Cavicchi Elena Procopio Maria Alice Donati Anna Ficcadenti Agata Fiumara Rita Barone Livia Garavelli Maja Di Rocco Mirella Filocamo Daniela Antuzzi Maurizio Scarpa Sean D Mooney Biao Li Anastasia Skouma Sebastiano Bianca Daniela Concolino Rosario Casalone Elena Monti Marilena Pantaleo Sabrina Giglio Renzo Guerrini Rossella Parini Amelia Morrone

Hum Mutat 2015 Mar;36(3):357-68

Molecular and Cell Biology Laboratory, Paediatric Neurology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital, Florence, Italy.

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March 2015