Works matching AU Barone, Rita

Results: 95

MAN2A2-related glycosylation defects in autism and cognitive delay.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-09400-5

By:

Treccarichi, Simone;
Vinci, Mirella;
Cirnigliaro, Lara;
Messina, Angela;
Palmigiano, Angelo;
Pettinato, Fabio;
Musumeci, Antonino;
Chiavetta, Valeria;
Saccone, Salvatore;
Sturiale, Luisa;
Calì, Francesco;
Barone, Rita

Publication type:

Article

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.

Published in:

Cellular & Molecular Life Sciences, 2025, v. 82, n. 1, p. 1, doi. 10.1007/s00018-025-05759-w

By:

Jáñez Pedrayes, Andrea;
De Craemer, Sam;
Idkowiak, Jakub;
Verdegem, Dries;
Thiel, Christian;
Barone, Rita;
Serrano, Mercedes;
Honzík, Tomáš;
Morava, Eva;
Vermeersch, Pieter;
Foulquier, François;
Morelle, Willy;
Swinnen, Johannes V.;
Rymen, Daisy;
Cassiman, David;
Ghesquière, Bart;
Witters, Peter

Publication type:

Article

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

Published in:

Glycobiology, 2005, v. 15, n. 12, p. 1268, doi. 10.1093/glycob/cwj021

By:

Luisa Sturiale;
Rita Barone;
Agata Fiumara;
Marta Perez;
Marco Zaffanello;
Giovanni Sorge;
Lorenzo Pavone;
Silvia Tortorelli;
John F. O’Brien;
Jaak Jaeken;
Domenico Garozzo

Publication type:

Article

Paroxysmal Dystonic Posturing Mimicking Nocturnal Leg Cramps as a Presenting Sign in an Infant with DCC Mutation, Callosal Agenesis and Mirror Movements.

Published in:

Journal of Clinical Medicine, 2024, v. 13, n. 4, p. 1109, doi. 10.3390/jcm13041109

By:

Prato, Adriana;
Cirnigliaro, Lara;
Maugeri, Federica;
Luca, Antonina;
Giuliano, Loretta;
Vitiello, Giuseppina;
Errichiello, Edoardo;
Valente, Enza Maria;
Del Giudice, Ennio;
Mostile, Giovanni;
Rizzo, Renata;
Barone, Rita

Publication type:

Article

Sensory Profiles in School-Aged Children with Autism Spectrum Disorder: A Descriptive Study Using the Sensory Processing Measure-2 (SPM-2).

Published in:

Journal of Clinical Medicine, 2022, v. 11, n. 6, p. 1668, doi. 10.3390/jcm11061668

By:

Narzisi, Antonio;
Fabbri-Destro, Maddalena;
Crifaci, Giulia;
Scatigna, Stefano;
Maugeri, Federica;
Berloffa, Stefano;
Fantozzi, Pamela;
Prato, Adriana;
Muccio, Rosy;
Valente, Elena;
Viglione, Valentina;
Pecchini, Edoardo;
Pelagatti, Susanna;
Rizzo, Renata;
Milone, Annarita;
Barone, Rita;
Masi, Gabriele

Publication type:

Article

Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 11, p. 3444, doi. 10.3390/jcm9113444

By:

Barone, Rita;
Gulisano, Mariangela;
Cannata, Emanuela;
Padalino, Sara;
Saia, Federica;
Maugeri, Nicoletta;
Pettinato, Fabio;
Lo Nigro, Luca;
Casabona, Antonino;
Russo, Giovanna;
Di Cataldo, Andrea;
Rizzo, Renata

Publication type:

Article

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 2716, doi. 10.3390/jcm9092716

By:

Fiumara, Agata;
Lanzafame, Giuseppina;
Arena, Alessia;
Sapuppo, Annamaria;
Raudino, Federica;
Praticò, Andrea;
Pavone, Piero;
Barone, Rita

Publication type:

Article

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

Published in:

Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x

By:

Pettinato, Fabio;
Mostile, Giovanni;
Battini, Roberta;
Martinelli, Diego;
Madeo, Annalisa;
Biamino, Elisa;
Frattini, Daniele;
Garozzo, Domenico;
Gasperini, Serena;
Parini, Rossella;
Sirchia, Fabio;
Sortino, Giuseppe;
Sturiale, Luisa;
Matthijs, Gert;
Morrone, Amelia;
Di Rocco, Maja;
Rizzo, Renata;
Jaeken, Jaak;
Fiumara, Agata;
Barone, Rita

Publication type:

Article

Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life.

Published in:

Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2024.1431693

By:

Cirnigliaro, Lara;
Clericò, Luisa;
Russo, Lorenza Chiara;
Prato, Adriana;
Caruso, Manuela;
Rizzo, Renata;
Barone, Rita

Publication type:

Article

Sensory phenomena in children with Tourette syndrome or autism spectrum disorder.

Published in:

Frontiers in Psychiatry, 2024, p. 1, doi. 10.3389/fpsyt.2024.1338234

By:

Prato, Adriana;
Saia, Federica;
Ferrigno, Marianna;
Finocchiaro, Valentina;
Barone, Rita;
Rizzo, Renata

Publication type:

Article

Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.705423

By:

Barone, Rita;
Fiumara, Agata;
Gulisano, Mariangela;
Cirnigliaro, Lara;
Cocuzza, Maria Donatella;
Guida, Claudia;
Pettinato, Fabio;
Greco, Filippo;
Elia, Maurizio;
Rizzo, Renata

Publication type:

Article

Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition.

Published in:

FASEB Journal, 2024, v. 38, n. 13, p. 1, doi. 10.1096/fj.202400213RR

By:

Annibalini, Giosuè;
Di Patria, Laura;
Valli, Giacomo;
Bocconcelli, Matteo;
Saltarelli, Roberta;
Ferri, Lorenzo;
Barberi, Laura;
Fanelli, Fabiana;
Morrone, Amelia;
Barone, Rita;
Guerrini, Renzo;
Musarò, Antonio;
Stocchi, Vilberto;
Barbieri, Elena

Publication type:

Article

Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.

Published in:

Proteomics, 2008, v. 8, n. 18, p. 3822, doi. 10.1002/pmic.200700496

By:

Sturiale, Luisa;
Barone, Rita;
Palmigiano, Angelo;
Ndosimao, Célestin Nsibu;
Briones, Paz;
Adamowicz, Maciej;
Jaeken, Jaak;
Garozzo, Domenico

Publication type:

Article

Plasma chitotriosidase activity in acute Plasmodium falciparum malaria.

Published in:

2003

By:

Barone, Rita;
Simporè, Jacques;
Malaguarnera, Lucia;
Pignatelli, Salvatore;
Musumeci, Salvatore

Publication type:

Letter

Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation).

Published in:

2025

By:

Pettinato, Fabio;
Marzà, Viviana;
Ciantia, Fiorella;
Romanello, Giorgia;
Cocuzza, Maria Donatella;
Fichera, Marco;
Rizzo, Renata;
Barone, Rita

Publication type:

Case Study

Erythrocyte deformability evaluated by laser diffractometry in polycythemia vera.

Published in:

Clinical Hemorheology & Microcirculation, 2012, v. 50, n. 3, p. 189, doi. 10.3233/ch-2010-1422

By:

Presti, Rosalia Lo;
Caracciolo, Clementina;
Montana, Maria;
Barone, Rita;
Catania, Anna;
Caimi, Gregorio

Publication type:

Article

Editorial: Women in psychiatry 2022: autism.

Published in:

Frontiers in Psychiatry, 2023, p. 1, doi. 10.3389/fpsyt.2023.1208163

By:

Barone, Rita;
Colombi, Costanza

Publication type:

Article

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).

Published in:

Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 1, p. 165, doi. 10.1515/cclm-2020-0650

By:

Casetta, Bruno;
Malvagia, Sabrina;
Funghini, Silvia;
Martinelli, Diego;
Dionisi-Vici, Carlo;
Barone, Rita;
Fiumara, Agata;
Donati, Maria Alice;
Guerrini, Renzo;
Marca, Giancarlo la

Publication type:

Article

Chitotriosidase activity in colostrum from African and Caucasian women.

Published in:

Clinical Chemistry & Laboratory Medicine, 2005, v. 43, n. 2, p. 198, doi. 10.1515/CCLM.2005.034

By:

Musumeci, Maria;
Malaguarnera, Lucia;
Simpore, Jacques;
Barone, Rita;
Whalen, Michael;
Musumeci, Salvatore

Publication type:

Article

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03027-x

By:

Cirnigliaro, Lara;
Pettinato, Fabio;
Valle, Maria Stella;
Casabona, Antonino;
Fiumara, Agata;
Vecchio, Michele;
Amico, Valerio;
Rizzo, Renata;
Jaeken, Jaak;
Barone, Rita;
Cioni, Matteo

Publication type:

Article

P1453: ORTHOTOPIC LIVER TRANSPLANT IN SICILIAN HEMOGLOBINOPHATIES PATIENTS.

Published in:

HemaSphere, 2023, v. 7, p. 1, doi. 10.1097/01.HS9.0000972696.43713.93

By:

Barone, Rita;
Magro, Bianca;
Vitrano, Angela;
Inzerillo, Alessandro;
Rosso, Rossellina;
Grazia Bavetta, Maria;
Fusco, Giorgio;
Olivo, Mirko;
Pitrolo, Lorella;
Giangreco, Antonino;
Maggio, Rosario DI;
Renda, Disma;
Rao Camemi, Angela;
Gruttadauria, Salvatore;
Maggio, Aurelio

Publication type:

Article

Early Sensory Profile in Autism Spectrum Disorders Predicts Emotional and Behavioral Issues.

Published in:

Journal of Personalized Medicine, 2022, v. 12, n. 10, p. 1593, doi. 10.3390/jpm12101593

By:

Fabbri-Destro, Maddalena;
Maugeri, Federica;
Ianni, Carolina;
Corsini, Sofia;
Di Stefano, Erica;
Scatigna, Stefano;
Crifaci, Giulia;
Bruzzi, Gianina;
Berloffa, Stefano;
Fantozzi, Pamela;
Prato, Adriana;
Muccio, Rosy;
Valente, Elena;
Pelagatti, Susanna;
Pecchini, Edoardo;
Zulli, Filippo;
Rizzo, Renata;
Milone, Annarita;
Viglione, Valentina;
Barone, Rita

Publication type:

Article

Mitochondrial Fatty Acid β-Oxidation and Resveratrol Effect in Fibroblasts from Patients with Autism Spectrum Disorder.

Published in:

Journal of Personalized Medicine, 2021, v. 11, n. 6, p. 510, doi. 10.3390/jpm11060510

By:

Barone, Rita;
Bastin, Jean;
Djouadi, Fatima;
Singh, Indrapal;
Karim, Mohammad Azharul;
Ammanamanchi, Amrit;
McCarty, Patrick John;
Delhey, Leanna;
Shannon, Rose;
Casabona, Antonino;
Rizzo, Renata;
Frye, Richard Eugene

Publication type:

Article

A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of COVID-19.

Published in:

Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.862422

By:

Prato, Adriana;
Maugeri, Nicoletta;
Chiarotti, Flavia;
Morcaldi, Lucia;
Vicario, Carmelo M.;
Barone, Rita;
Rizzo, Renata

Publication type:

Article

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Published in:

2019

By:

Zanetti, Alessandra;
D'Avanzo, Francesca;
Rigon, Laura;
Rampazzo, Angelica;
Concolino, Daniela;
Barone, Rita;
Volpi, Nicola;
Santoro, Lucia;
Lualdi, Susanna;
Bertola, Francesca;
Scarpa, Maurizio;
Tomanin, Rosella

Publication type:

journal article

Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting.

Published in:

Genes, 2023, v. 14, n. 2, p. 500, doi. 10.3390/genes14020500

By:

Saia, Federica;
Prato, Adriana;
Saccuzzo, Lucia;
Madia, Francesca;
Barone, Rita;
Fichera, Marco;
Rizzo, Renata

Publication type:

Article

Chitotriosidase in Patients with Acute Ischemic Stroke.

Published in:

European Neurology, 2005, v. 54, n. 3, p. 149, doi. 10.1159/000089935

By:

Sotgiu, Stefano;
Barone, Rita;
Zanda, Bastianina;
Arru, Giannina;
Fois, M. Laura;
Arru, Antonello;
Rosati, Giulio;
Marchetti, Bianca;
Musumeci, Salvatore

Publication type:

Article

N-Glycomics of Human Erythrocytes.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8063, doi. 10.3390/ijms22158063

By:

Bua, Rosaria Ornella;
Messina, Angela;
Sturiale, Luisa;
Barone, Rita;
Garozzo, Domenico;
Palmigiano, Angelo

Publication type:

Article

Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6203, doi. 10.3390/ijms21176203

By:

Ragusa, Marco;
Santagati, Maria;
Mirabella, Federica;
Lauretta, Giovanni;
Cirnigliaro, Matilde;
Brex, Duilia;
Barbagallo, Cristina;
Domini, Carla Noemi;
Gulisano, Mariangela;
Barone, Rita;
Trovato, Laura;
Oliveri, Salvatore;
Mongelli, Gino;
Spitale, Ambra;
Barbagallo, Davide;
Di Pietro, Cinzia;
Stefani, Stefania;
Rizzo, Renata;
Purrello, Michele

Publication type:

Article

Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder.

Published in:

International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 1878, doi. 10.3390/ijms20081878

By:

Barone, Rita;
Rizzo, Renata;
Tabbì, Giovanni;
Malaguarnera, Michele;
Frye, Richard E.;
Bastin, Jean

Publication type:

Article

Prominent neurological involvement in Dercum disease.

Published in:

2017

By:

Cantone, Mariagiovanna;
Lanza, Giuseppe;
Pennisi, Manuela;
Bella, Rita;
Schepis, Carmelo;
Siragusa, Maddalena;
Barone, Rita;
Ferri, Raffaele

Publication type:

Letter

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Published in:

Journal of Neurology, 2015, v. 262, n. 1, p. 154, doi. 10.1007/s00415-014-7549-7

By:

Barone, Rita;
Carrozzi, M.;
Parini, R.;
Battini, R.;
Martinelli, D.;
Elia, M.;
Spada, M.;
Lilliu, F.;
Ciana, G.;
Burlina, A.;
Leuzzi, V.;
Leoni, M.;
Sturiale, L.;
Matthijs, G.;
Jaeken, J.;
Rocco, M.;
Garozzo, D.;
Fiumara, A.

Publication type:

Article

Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.

Published in:

Biotechnology & Applied Biochemistry, 2008, v. 049, n. 3, p. 219

By:

Paola Di Natale;
Guglielmo R. D. Villani;
Rossella Parini;
Maurizio Scarpa;
Giancarlo Parenti;
Gianfranco Pontarelli;
Michela Grosso;
Giovanna Sersale;
Rosella Tomanin;
Michelina Sibilio;
Rita Barone;
Agata Fiumara

Publication type:

Article

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 9, p. 1769, doi. 10.1093/hmg/8.9.1769

By:

Kalff-Suske, Martha;
Wild, Anja;
Topp, Juliane;
Wessling, Martina;
Jacobsen, Eva-Maria;
Bornholdt, Dorothea;
Engel, Hartmut;
Heuer, Heike;
Aalfs, Cora M.;
Ausems, Margreet G.E.M.;
Barone, Rita;
Herzog, Andreas;
Heutink, Peter;
Homfray, Tessa;
Gillessen-Kaesbach, Gabriele;
Konig, Rainer;
Kunze, Jurgen;
Meinecke, Peter;
Muller, Dietmar;
Rizzo, Renata

Publication type:

Article

A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype.

Published in:

Molecular Syndromology, 2021, v. 12, n. 5, p. 327, doi. 10.1159/000516606

By:

Nicotera, Antonio Gennaro;
Spoto, Giulia;
Calì, Francesco;
Romeo, Giusi;
Musumeci, Antonino;
Vinci, Mirella;
Fiumara, Agata;
Barone, Rita;
Di Rosa, Gabriella;
Musumeci, Sebastiano Antonino

Publication type:

Article

Psychometric Properties of the Italian Version of the Assessment of Identity Development in Adolescence (AIDA).

Published in:

Identity, 2021, v. 21, n. 3, p. 255, doi. 10.1080/15283488.2021.1916748

By:

Musetti, Alessandro;
Giammarresi, Giuseppina;
Goth, Kirstin;
Petralia, Antonino;
Barone, Rita;
Rizzo, Renata;
Concas, Ilaria;
Terrinoni, Arianna;
Basile, Consuelo;
Di Maggio, Chiara;
Lopez, Felipe;
Terrone, Grazia;
Alessandra, Alessia;
Messena, Mattia;
Imperato, Chiara;
Sibilla, Federica;
Caricati, Luca;
Mancini, Tiziana;
Corsano, Paola;
Aguglia, Eugenio

Publication type:

Article

Dynamical complexity of postural control system in autism spectrum disorder: a feasibility study of linear and non-linear measures in posturographic analysis of upright posture.

Published in:

Journal of NeuroEngineering & Rehabilitation (JNER), 2024, v. 21, n. 1, p. 1, doi. 10.1186/s12984-024-01520-9

By:

Pettinato, Fabio;
Valle, Maria Stella;
Cioni, Matteo;
Cirnigliaro, Lara;
Rizzo, Renata;
Barone, Rita;
Bosco, Gianfranco;
Casabona, Antonino

Publication type:

Article

Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA: Report of a new patient and review of the literature.

Published in:

Neurogenetics, 2024, v. 25, n. 3, p. 281, doi. 10.1007/s10048-024-00754-y

By:

Teutonico, Federica;
Volpe, Clara;
Proto, Alice;
Costi, Ilaria;
Cavallari, Ugo;
Doneda, Paola;
Iascone, Maria;
Sturiale, Luisella;
Barone, Rita;
Martinelli, Stefano;
Vignoli, Aglaia

Publication type:

Article

Mucopolysaccharidosis VI: the Italian experience.

Published in:

2009

By:

Scarpa, Maurizio;
Barone, Rita;
Fiumara, Agata;
Astarita, Luca;
Parenti, Giancarlo;
Rampazzo, Angelica;
Sala, Stefania;
Sorge, Giovanni;
Parini, Rossella

Publication type:

journal article

Tuberous breast deformity in an adolescent girl with Hurler-Scheie syndrome.

Published in:

2000

By:

Barone, Rita;
Pavone, Piero;
Trifiletti, Rosario R.;
Parano, Enrico;
Barone, R;
Pavone, P;
Trifiletti, R R;
Parano, E

Publication type:

Case Study

Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder.

Published in:

Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00250

By:

Cirnigliaro, Matilde;
Barbagallo, Cristina;
Gulisano, Mariangela;
Domini, Carla N.;
Barone, Rita;
Barbagallo, Davide;
Ragusa, Marco;
Di Pietro, Cinzia;
Rizzo, Renata;
Purrello, Michele

Publication type:

Article

Callosal anomalies with interhemispheric cyst: expanding the phenotype.

Published in:

2005

By:

Pavone, Piero;
Barone, Rita;
Baieli, Sabrina;
Parano, Enrico;
Incorpora, Gemma;
Ruggieri, Martino

Publication type:

journal article

An unknown cause of aortic valve stenosis: polycythemia vera.

Published in:

Journal of Thrombosis & Thrombolysis, 2013, v. 35, n. 2, p. 282, doi. 10.1007/s11239-012-0786-7

By:

Fazio, Giovanni;
Caracciolo, Clementina;
Barone, Rita;
D'angelo, Luciana;
Maggio, Rosario;
Vernuccio, Federica;
Siragusa, Sergio

Publication type:

Article

Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12826

By:

Holubova, Veronika;
Barone, Rita;
Grunewald, Stephanie;
Tesařová, Markéta;
Hansíková, Hana;
Augustínová, Jana;
Sykut‐Cegielska, Jolanta;
De Nictolis, Francesca;
Diaz‐Moreno, Unai;
Elangovan, Ramyia;
Epifani, Florencia;
Gasperini, Serena;
Jansen, Mirian;
Lefeber, Dirk;
Maksym‐Gasiorek, Dorota;
Diego, Martinelli;
Ounap, Katrin;
Pettinato, Fabio;
Põder, Haide;
Rymen, Daisy

Publication type:

Article

ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 969, doi. 10.1002/jimd.12527

By:

Albokhari, Daniah;
Ng, Bobby G.;
Guberinic, Alis;
Daniel, Earnest James Paul;
Engelhardt, Nicole M.;
Barone, Rita;
Fiumara, Agata;
Garavelli, Livia;
Trimarchi, Gabriele;
Wolfe, Lynne;
Raymond, Kimiyo M.;
Morava, Eva;
He, Miao;
Freeze, Hudson H.;
Lam, Christina;
Edmondson, Andrew C.

Publication type:

Article

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 148, doi. 10.1002/jimd.12286

By:

Altassan, Ruqaiah;
Radenkovic, Silvia;
Edmondson, Andrew C.;
Barone, Rita;
Brasil, Sandra;
Cechova, Anna;
Coman, David;
Donoghue, Sarah;
Falkenstein, Kristina;
Ferreira, Vanessa;
Ferreira, Carlos;
Fiumara, Agata;
Francisco, Rita;
Freeze, Hudson;
Grunewald, Stephanie;
Honzik, Tomas;
Jaeken, Jaak;
Krasnewich, Donna;
Lam, Christina;
Lee, Joy

Publication type:

Article

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 3, p. 553, doi. 10.1002/jimd.12055

By:

Vals, Mari‐Anne;
Ashikov, Angel;
Ilves, Pilvi;
Loorits, Dagmar;
Zeng, Qiang;
Barone, Rita;
Huijben, Karin;
Sykut‐Cegielska, Jolanta;
Diogo, Luísa;
Elias, Abdallah F.;
Greenwood, Robert S.;
Grunewald, Stephanie;
van Hasselt, Peter M.;
van de Kamp, Jiddeke M.;
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Coman, David;
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de Lonlay, Pascale;
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Ferreira, Carlos R;
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