Anderson-Fabry, the histrionic disease: from genetics to clinical management by Franco Cecchi, Benedetta Tomberli, Amelia Morrone

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Case Report: Dramatic Cholestasis Responsive to Steroids in a Newborn Homozygous for H63D HFE Variant by Luca Filippi, Luca Filippi, Sara Tamagnini, Francesca Lorenzoni, Anna Caciotti, Amelia Morrone, Amelia Morrone, Rosa Scaramuzzo

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Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know by Mirella Filocamo, Rosella Tomanin, Francesca Bertola, Amelia Morrone

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Anderson-Fabry’s Disease: A Rare but Treatable Case of Fever of Unknown Origin by Francesca Graziani, Aureliano Ruggio, Antonio Iaconelli, Elena Verrecchia, Amelia Morrone, Daniela Antuzzi, Filippo Crea, Raffaele Manna

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Synthesis of “<i>All-Cis”</i> Trihydroxypiperidines from a Carbohydrate-Derived Ketone: Hints for the Design of New β-Gal and GCase Inhibitors by Maria Giulia Davighi, Francesca Clemente, Camilla Matassini, Amelia Morrone, Andrea Goti, Macarena Martínez-Bailén, Francesca Cardona

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High frequency of biotinidase deficiency in Italian population identified by newborn screening by Silvia Funghini, Rodolfo Tonin, Sabrina Malvagia, Anna Caciotti, Maria Alice Donati, Amelia Morrone, Giancarlo la Marca

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Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C by Claudia Capitini, Federica Feo, Anna Caciotti, Rodolfo Tonin, Matteo Lulli, Domenico Coviello, Renzo Guerrini, Martino Calamai, Amelia Morrone

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Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome by Gianluigi Ardissino, Michela Perrone, Francesca Tel, Sara Testa, Amelia Morrone, Ilaria Possenti, Francesco Tagliaferri, Robertino Dilena, Francesca Menni

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Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis by Francesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, Amelia Morrone, Silvia Falliano, Anna Caciotti, Paolo Paoli, Andrea Goti, Francesca Cardona

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Evaluating pathological levels of intracellular cholesterol through Raman and surface-enhanced Raman spectroscopies by Enrico Baria, Caterina Dallari, Francesco Mattii, Francesco Saverio Pavone, Caterina Credi, Riccardo Cicchi, Amelia Morrone, Claudia Capitini, Martino Calamai

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SARS-CoV-2 infection in a patient with propionic acidemia by Anna Caciotti, Elena Procopio, Francesca Pochiero, Silvia Falliano, Giuseppe Indolfi, Maria Alice Donati, Lorenzo Ferri, Renzo Guerrini, Amelia Morrone

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Obesity as a Confounding Factor in the Diagnosis of Wilson’s Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses by Emanuele Bracciamà, Annamaria Sapuppo, Laura Rapisarda, Enrico Siciliano, Anna Caciotti, Amelia Morrone, Martino Ruggieri, Giuseppina Cantarella, Renato Bernardini, Gaetano Bertino

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Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its... by Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai

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Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applications by Jacopo Cardellini, Caterina Dallari, Ilaria De Santis, Lorenzo Riccio, Costanza Ceni, Amelia Morrone, Martino Calamai, Francesco Saverio Pavone, Caterina Credi, Costanza Montis, Debora Berti

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The neuronal ceroid lipofuscinosis type 2 – associated variants: An analysis of alterations in the TPP1 gene and genotype–phenotype correlation in Ukraine by Nataliia Olkhovych, Nataliia Pichkur, Nataliia Mytsyk, Rodolfo Tonin, Svitlana Kormoz, Iryna Hregul, Nataliia Samonenko, Tetiana Shklyarskaya, Volodymyr Olkhovych, Olexandr Buryak, Amelia Morrone, Nataliia Gorovenko

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Generation of human induced pluripotent stem cell line (AOUMEYi001-A) from a patient affected by Congenital disorders of glycosylation (ALG8-CDG) using self-replicating RNA vector by Rodolfo Tonin, Federica Feo, Silvia Falliano, Lorenzo Ferri, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone

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Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector by Rodolfo Tonin, Federica Feo, Silvia Falliano, Laura Giunti, Martino Calamai, Elena Procopio, Francesco Mari, Vittorio Sciruicchio, Valerio Conti, Ilaria Fanelli, Franco Bambi, Renzo Guerrini, Amelia Morrone

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Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies by Serena Catarzi, Anna Caciotti, Janita Thusberg, Rodolfo Tonin, Sabrina Malvagia, Giancarlo la Marca, Elisabetta Pasquini, Catia Cavicchi, Lorenzo Ferri, Maria A. Donati, Federico Baronio, Renzo Guerrini, Sean D. Mooney, Amelia Morrone

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Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience by Rita Fischetto, Valentina Palladino, Maria M. Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E. Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano

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Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mut... by Ana Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, Tiziana Bachetti, Paride Pelucchi, Valentina Melzi, Cinzia Arzilli, Marta Peruzzi, Rolland A. Reinbold, Silvia Cardani, Amelia Morrone, Renzo Guerrini, Ileana Zucchi, Stefania Corti, Isabella Ceccherini, Raffaele Piumelli, Niccolò Nassi, Simona Di Lascio, Diego Fornasari

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