Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease
Martha Caterina Faraguna, Alexander Broomfield, Serena Gasperini, Yin‐Hsiu Chien et autres
1 citationNeurology Genetics
Martha Caterina Faraguna
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26Publications signalées
107Citations signalées
5Affiliations récentes
Institutions déclarées
Domaines associés
Glycogen Storage Diseases and MyoclonusLysosomal Storage Disorders ResearchMetabolism and Genetic DisordersRespiratory viral infections researchHemoglobinopathies and Related Disorders
Publications récentes
Case Report: A diagnostic algorithm for pediatric cholelithiasis: recognizing underlying hemolytic anemia through a case of hereditary spherocytosis
Marialetizia Fantasia, Martha Caterina Faraguna, Riccardo Pagani, A. Catalano et autres
0 citationsFrontiers in Hematology
Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation
Martha Caterina Faraguna, Viola Crescitelli, Roberta Pretese, Maria Valvassori Bolgè et autres
1 citationChildren
A comprehensive study on the effect of alglucosidase alpha and immunomodulation on survival, motor and cardiac outcome, creatine kinase and antibody titers in classic infantile Pompe disease: the Monza experience
Martha Caterina Faraguna, Viola Crescitelli, Sonia Bonanomi, Gaia Kullmann et autres
0 citationsCurrent Opinion in Immunology
Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA
Sofia Maria Carlotta Arnaboldi, Martha Caterina Faraguna, Antonella Colombini, Alessandra Sala et autres
0 citationsFrontiers in Pediatrics
Results of orthodontic procedure in a patient with classic infantile Pompe disease
D D’Alessandro, Martha Caterina Faraguna, Andrea Boggio, Giulia Caldara et autres
0 citationsThe Italian Journal of Pediatrics/Italian journal of pediatrics
A new insight in Pompe disease: Pharmacokinetic variability after recombinant alpha-glucosidase infusion
Martha Caterina Faraguna, Edwin H. Jacobs, Marianne Hoogeveen‐Westerveld, Serena Gasperini et autres
0 citationsMolecular Genetics and Metabolism
Epilepsy is part of the central nervous system phenotype in classic infantile Pompe disease
Martha Caterina Faraguna, Alexander Broomfield, Serena Gasperini, Hernan Amartino et autres
0 citationsMolecular Genetics and Metabolism
The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease
Roberta Pretese, Cristina Bonfanti, Martha Caterina Faraguna, Marialetizia Fantasia et autres
6 citationsNutrients
Endocrine, auxological and metabolic profile in children and adolescents with Down syndrome: from infancy to the first steps into adult life
Silvia Molinari, C Fossati, Maria Laura Nicolosi, Santo Di Marco et autres
9 citationsFrontiers in Endocrinology
Le colelitiasi a origine ematologica
Marialetizia Fantasia, Martha Caterina Faraguna, Giulia Ferrari, Paola Cortí
0 citationsMedico e Bambino
Quando il versamento pleurico origina... dall'addome
Martha Caterina Faraguna, Giulia Quadri, Giuseppe Floramo, Alessandra Rancan et autres
0 citationsMedico e Bambino - Pagine Elettroniche
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