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1 . Academic Journal
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature
저자
by
Gianni Cutillo
;
Silvia Masnada
;
Gaetan Lesca
;
Dorothée Ville
;
Patrizia Accorsi
, et al.
소스
Epilepsia Open, Vol 9, Iss 1, Pp 106-121 (2024)
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7 . Academic Journal
Corrigendum: Newborn screening for X-linked adrenoleukodystrophy in Italy: diagnostic algorithm and disease monitoring
저자
by
Eleonora Bonaventura
;
Luisella Alberti
;
Simona Lucchi
;
Laura Cappelletti
;
Salvatore Fazzone
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
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Scopus
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7 . Academic Journal
A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy
저자
by
Antonella Riva
;
Roberta Roberti
;
Gianluca D'Onofrio
;
Maria Stella Vari
;
Elisabetta Amadori
, et al.
소스
Epilepsia Open, Vol 8, Iss 3, Pp 1142-1150 (2023)
Open Access (Wiley)
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7 . Academic Journal
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study
저자
by
Benedetta Cavirani
;
Carlotta Spagnoli
;
Stefano Giuseppe Caraffi
;
Anna Cavalli
;
Carlo Alberto Cesaroni
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1248 (2024)
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7 . Academic Journal
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders
저자
by
Costanza Varesio
;
Valentina De Giorgis
;
Pierangelo Veggiotti
;
Nardo Nardocci
;
Tiziana Granata
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Thyroid dysfunction in children and adolescents affected by undernourished and overnourished eating disorders
저자
by
Valeria Calcaterra
;
Vittoria Carlotta Magenes
;
Francesca Siccardo
;
Chiara Hruby
;
Martina Basso
, et al.
소스
Frontiers in Nutrition, Vol 10 (2023)
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7 . Academic Journal
Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus
저자
by
Roberto Previtali
;
Giorgia Prontera
;
Enrico Alfei
;
Luisa Nespoli
;
Silvia Masnada
, et al.
소스
Pharmacological Research, Vol 195, Iss , Pp 106884- (2023)
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7 . Academic Journal
Ketonemia variability through menstrual cycle in patients undergoing classic ketogenic diet
저자
by
Ludovica Pasca
;
Cinzia Ferraris
;
Monica Guglielmetti
;
Costanza Varesio
;
Martina Totaro
, et al.
소스
Frontiers in Nutrition, Vol 10 (2023)
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Scopus
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7 . Academic Journal
Ketogenic dietary therapies in epilepsy: recommendations of the Italian League against Epilepsy Dietary Therapy Study Group
저자
by
Valentina De Giorgis
;
Anna Tagliabue
;
Francesca Bisulli
;
Ilaria Brambilla
;
Alessandra Camerini
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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7 . Academic Journal
Case report: Early-onset parkinsonism among the neurological features in children with PHACTR1 variants
저자
by
Roberto Previtali
;
Alessia Leidi
;
Martina Basso
;
Giana Izzo
;
Cecilia Stignani
, et al.
소스
Frontiers in Neurology, Vol 14 (2023)
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